(used for variant description)
(last modified March 21, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_006180.3 in the NTRK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering NTRK2 transcript NM_006180.3.
(upstream sequence)
. . . g.5038
aagacggattctcagacaaggcttgcaaatgccccgca c.-901
. . . . . . g.5098
gccatcatttaactgcacccgcagaatagttacggtttgtcacccgaccctcccggatcg c.-841
. . . . . . g.5158
cctaatttgtccctagtgagaccccgaggctctgcccgcgcctggcttcttcgtagctgg c.-781
. . . . . . g.5218
atgcatatcgtgctccgggcagcgcgggcgcagggcacgcgttcgcgcacaccctagcac c.-721
. . | 02 . . . . g.5794
acatgaacacgcgcaag | agctgaaccaagcacggtttccatttcaaaaagggagacagcc c.-661
. . . . . . g.5854
tctaccgcgattgtagaagagactgtggtgtgaattagggaccgggaggcgtcgaacgga c.-601
. . | 03 . . . g.6170
ggaacggttcatcttagag | actaattttctggagtttctgcccctgctctgcgtcagccc c.-541
. . . . . . g.6230
tcacgtcacttcgccagcagtagcagaggcggcggcggcggctcccggaattgggttgga c.-481
. . . . . . g.6290
gcaggagcctcgctggctgcttcgctcgcgctctacgcgctcagtccccggcggtagcag c.-421
. . . . . | 04. g.6838
gagcctggacccaggcgccgccggcgggcgtgaggcgccggagcccgg | cctcgaggtgca c.-361
. . . . . . g.6898
taccggacccccattcgcatctaacaaggaatctgcgccccagagagtcccgggagcgcc c.-301
. . . . . . g.6958
gccggtcggtgcccggcgcgccgggccatgcagcgacggccgccgcggagctccgagcag c.-241
. . . . . . g.7018
cggtagcgcccccctgtaaagcggttcgctatgccggggccactgtgaaccctgccgcct c.-181
. . . . . . g.7078
gccggaacactcttcgctccggaccagctcagcctctgataagctggactcggcacgccc c.-121
. . . . . . g.7138
gcaacaagcaccgaggagttaagagagccgcaagcgcagggaaggcctccccgcacgggt c.-61
. . . . . . g.7198
gggggaaagcggccggtgcagcgcggggacaggcactcgggctggcactggctgctaggg c.-1
. . . . . . g.7258
ATGTCGTCCTGGATAAGGTGGCATGGACCCGCCATGGCGCGGCTCTGGGGCTTCTGCTGG c.60
M S S W I R W H G P A M A R L W G F C W p.20
. . . . . . g.7318
CTGGTTGTGGGCTTCTGGAGGGCCGCTTTCGCCTGTCCCACGTCCTGCAAATGCAGTGCC c.120
L V V G F W R A A F A C P T S C K C S A p.40
. . . . . . g.7378
TCTCGGATCTGGTGCAGCGACCCTTCTCCTGGCATCGTGGCATTTCCGAGATTGGAGCCT c.180
S R I W C S D P S P G I V A F P R L E P p.60
. . . | 05 . . . g.38636
AACAGTGTAGATCCTGAGAACATCACCGAAAT | TTTCATCGCAAACCAGAAAAGGTTAGAA c.240
N S V D P E N I T E I | F I A N Q K R L E p.80
. . . . | 06. . g.38810
ATCATCAACGAAGATGATGTTGAAGCTTATGTGGGACTGAGAAATCT | GACAATTGTGGAT c.300
I I N E D D V E A Y V G L R N L | T I V D p.100
. . . . . | 07 g.44294
TCTGGATTAAAATTTGTGGCTCATAAAGCATTTCTGAAAAACAGCAACCTGCAGCACAT | C c.360
S G L K F V A H K A F L K N S N L Q H I | p.120
. . . . . . g.44354
AATTTTACCCGAAACAAACTGACGAGTTTGTCTAGGAAACATTTCCGTCACCTTGACTTG c.420
N F T R N K L T S L S R K H F R H L D L p.140
| 08 . . . . . g.47138
TCTGAACT | GATCCTGGTGGGCAATCCATTTACATGCTCCTGTGACATTATGTGGATCAAG c.480
S E L | I L V G N P F T C S C D I M W I K p.160
. . . . . . g.47198
ACTCTCCAAGAGGCTAAATCCAGTCCAGACACTCAGGATTTGTACTGCCTGAATGAAAGC c.540
T L Q E A K S S P D T Q D L Y C L N E S p.180
. . . . | 09 . . g.60039
AGCAAGAATATTCCCCTGGCAAACCTGCAGATACCCAATTGTG | GTTTGCCATCTGCAAAT c.600
S K N I P L A N L Q I P N C G | L P S A N p.200
. . . . . . g.60099
CTGGCCGCACCTAACCTCACTGTGGAGGAAGGAAAGTCTATCACATTATCCTGTAGTGTG c.660
L A A P N L T V E E G K S I T L S C S V p.220
. . . . . . g.60159
GCAGGTGATCCGGTTCCTAATATGTATTGGGATGTTGGTAACCTGGTTTCCAAACATATG c.720
A G D P V P N M Y W D V G N L V S K H M p.240
| 10 . . . . . . g.60733
| AATGAAACAAGCCACACACAGGGCTCCTTAAGGATAACTAACATTTCATCCGATGACAGT c.780
| N E T S H T Q G S L R I T N I S S D D S p.260
. . . . . . g.60793
GGGAAGCAGATCTCTTGTGTGGCGGAAAATCTTGTAGGAGAAGATCAAGATTCTGTCAAC c.840
G K Q I S C V A E N L V G E D Q D S V N p.280
. | 11 . . . . . g.64150
CTCACTGTGCATT | TTGCACCAACTATCACATTTCTCGAATCTCCAACCTCAGACCACCAC c.900
L T V H F | A P T I T F L E S P T S D H H p.300
. . . . . . g.64210
TGGTGCATTCCATTCACTGTGAAAGGCAACCCCAAACCAGCGCTTCAGTGGTTCTATAAC c.960
W C I P F T V K G N P K P A L Q W F Y N p.320
. . . . . . g.64270
GGGGCAATATTGAATGAGTCCAAATACATCTGTACTAAAATACATGTTACCAATCACACG c.1020
G A I L N E S K Y I C T K I H V T N H T p.340
. . . . . . g.64330
GAGTACCACGGCTGCCTCCAGCTGGATAATCCCACTCACATGAACAATGGGGACTACACT c.1080
E Y H G C L Q L D N P T H M N N G D Y T p.360
. . . . . . g.64390
CTAATAGCCAAGAATGAGTATGGGAAGGATGAGAAACAGATTTCTGCTCACTTCATGGGC c.1140
L I A K N E Y G K D E K Q I S A H F M G p.380
. | 12 . . . | 13 . g.81427
TGGCCTGGAATTGACGATG | GTGCAAACCCAAATTATCCTGATGTAATTTATGAAG | ATTAT c.1200
W P G I D D G | A N P N Y P D V I Y E D | Y p.400
. . . . . . g.81487
GGAACTGCAGCGAATGACATCGGGGACACCACGAACAGAAGTAATGAAATCCCTTCCACA c.1260
G T A A N D I G D T T N R S N E I P S T p.420
. . . | 14 . . . g.88459
GACGTCACTGATAAAACCGGTCGGGAACATCTCTCG | GTCTATGCTGTGGTGGTGATTGCG c.1320
D V T D K T G R E H L S | V Y A V V V I A p.440
. . . . . . g.88519
TCTGTGGTGGGATTTTGCCTTTTGGTAATGCTGTTTCTGCTTAAGTTGGCAAGACACTCC c.1380
S V V G F C L L V M L F L L K L A R H S p.460
. | 15 . . . . . g.197533
AAGTTTGGCATGAAAG | ATTTCTCATGGTTTGGATTTGGGAAAGTAAAATCAAGACAAGGT c.1440
K F G M K D | F S W F G F G K V K S R Q G p.480
| 16 . . . . . . g.203748
GTTG | GCCCAGCCTCCGTTATCAGCAATGATGATGACTCTGCCAGCCCACTCCATCACATC c.1500
V G | P A S V I S N D D D S A S P L H H I p.500
. . . . . . g.203808
TCCAATGGGAGTAACACTCCATCTTCTTCGGAAGGTGGCCCAGATGCTGTCATTATTGGA c.1560
S N G S N T P S S S E G G P D A V I I G p.520
. . . . . . g.203868
ATGACCAAGATCCCTGTCATTGAAAATCCCCAGTACTTTGGCATCACCAACAGTCAGCTC c.1620
M T K I P V I E N P Q Y F G I T N S Q L p.540
. | 17 . . . . . g.270658
AAGCCAGACACAT | TTGTTCAGCACATCAAGCGACATAACATTGTTCTGAAAAGGGAGCTA c.1680
K P D T F | V Q H I K R H N I V L K R E L p.560
. . . . . . g.270718
GGCGAAGGAGCCTTTGGAAAAGTGTTCCTAGCTGAATGCTATAACCTCTGTCCTGAGCAG c.1740
G E G A F G K V F L A E C Y N L C P E Q p.580
. . | 18 . . . . g.284947
GACAAGATCTTGGTGGCAGTGAAG | ACCCTGAAGGATGCCAGTGACAATGCACGCAAGGAC c.1800
D K I L V A V K | T L K D A S D N A R K D p.600
. . . . . . g.285007
TTCCACCGTGAGGCCGAGCTCCTGACCAACCTCCAGCATGAGCACATCGTCAAGTTCTAT c.1860
F H R E A E L L T N L Q H E H I V K F Y p.620
. . . . . . g.285067
GGCGTCTGCGTGGAGGGCGACCCCCTCATCATGGTCTTTGAGTACATGAAGCATGGGGAC c.1920
G V C V E G D P L I M V F E Y M K H G D p.640
. | 19. . . . . g.291775
CTCAACAAGTTCCTCAG | GGCACACGGCCCTGATGCCGTGCTGATGGCTGAGGGCAACCCG c.1980
L N K F L R | A H G P D A V L M A E G N P p.660
. . . . . . g.291835
CCCACGGAACTGACGCAGTCGCAGATGCTGCATATAGCCCAGCAGATCGCCGCGGGCATG c.2040
P T E L T Q S Q M L H I A Q Q I A A G M p.680
. . . . . . g.291895
GTCTACCTGGCGTCCCAGCACTTCGTGCACCGCGATTTGGCCACCAGGAACTGCCTGGTC c.2100
V Y L A S Q H F V H R D L A T R N C L V p.700
. . . . . . g.291955
GGGGAGAACTTGCTGGTGAAAATCGGGGACTTTGGGATGTCCCGGGACGTGTACAGCACT c.2160
G E N L L V K I G D F G M S R D V Y S T p.720
. | 20 . . . . . g.356703
GACTACTACAGG | GTCGGTGGCCACACAATGCTGCCCATTCGCTGGATGCCTCCAGAGAGC c.2220
D Y Y R | V G G H T M L P I R W M P P E S p.740
. . . . . . g.356763
ATCATGTACAGGAAATTCACGACGGAAAGCGACGTCTGGAGCCTGGGGGTCGTGTTGTGG c.2280
I M Y R K F T T E S D V W S L G V V L W p.760
. . . . . | 21 . g.357710
GAGATTTTCACCTATGGCAAACAGCCCTGGTACCAGCTGTCAAACAATGAG | GTGATAGAG c.2340
E I F T Y G K Q P W Y Q L S N N E | V I E p.780
. . . . . . g.357770
TGTATCACTCAGGGCCGAGTCCTGCAGCGACCCCGCACGTGCCCCCAGGAGGTGTATGAG c.2400
C I T Q G R V L Q R P R T C P Q E V Y E p.800
. . . . . . g.357830
CTGATGCTGGGGTGCTGGCAGCGAGAGCCCCACATGAGGAAGAACATCAAGGGCATCCAT c.2460
L M L G C W Q R E P H M R K N I K G I H p.820
. . . . . g.357887
ACCCTCCTTCAGAACTTGGCCAAGGCATCTCCGGTCTACCTGGACATTCTAGGCTAG c.2517
T L L Q N L A K A S P V Y L D I L G X p.838
. . . . . . g.357947
ggcccttttccccagaccgatccttcccaacgtactcctcagacgggctgagaggatgaa c.*60
. . . . . . g.358007
catcttttaactgccgctggaggccaccaagctgctctccttcactctgacagtattaac c.*120
. . . . . . g.358067
atcaaagactccgagaagctctcgagggaagcagtgtgtacttcttcatccatagacaca c.*180
. . . . . . g.358127
gtattgacttctttttggcattatctctttctctctttccatctcccttggttgttcctt c.*240
. . . . . . g.358187
tttctttttttaaattttctttttcttttttttttcgtcttccctgcttcacgattctta c.*300
. . . . . . g.358247
ccctttcttttgaatcaatctggcttctgcattactattaactctgcatagacaaaggcc c.*360
. . . . . . g.358307
ttaacaaacgtaatttgttatatcagcagacactccagtttgcccaccacaactaacaat c.*420
. . . . . . g.358367
gccttgttgtattcctgcctttgatgtggatgaaaaaaagggaaaacaaatatttcactt c.*480
. . . . . . g.358427
aaactttgtcacttctgctgtacagatatcgagagtttctatggattcacttctatttat c.*540
. . . . . . g.358487
ttattattattactgttcttattgtttttggatggcttaagcctgtgtataaaaaagaaa c.*600
. . . . . . g.358547
acttgtgttcaatctgtgaagcctttatctatgggagattaaaaccagagagaaagaaga c.*660
. . . . . . g.358607
tttattatgaaccgcaatatgggaggaacaaagacaaccactgggatcagctggtgtcag c.*720
. . . . . . g.358667
tccctacttaggaaatactcagcaactgttagctgggaagaatgtattcggcaccttccc c.*780
. . . . . . g.358727
ctgaggacctttctgaggagtaaaaagactactggcctctgtgccatggatgattctttt c.*840
. . . . . . g.358787
cccatcaccagaaatgatagcgtgcagtagagagcaaagatggcttccgtgagacacaag c.*900
. . . . . . g.358847
atggcgcatagtgtgctcggacacagttttgtcttcgtaggttgtgatgatagcactggt c.*960
. . . . . . g.358907
ttgtttctcaagcgctatccacagaacctttgtcaacttcagttgaaaagaggtggattc c.*1020
. . . . . . g.358967
atgtccagagctcatttcggggtcaggtgggaaagccaagaacttggaaaagataagaca c.*1080
. . . . . . g.359027
agctataaattcggaggcaagtttcttttacaatgaacttttcagatctcacttccctcc c.*1140
. . . . . . g.359087
gacccctaacttccatgcccacccgtccttttaactgtgcaagcaaaattgtgcatggtc c.*1200
. . . . . . g.359147
ttcgtcgattaataccttgtgtgcagacactactgctccagacgtcgtttccctgatagg c.*1260
. . . . . . g.359207
tagagcagatccataaaaaggtatgacttatacaattaggggaagctaatggagtttatt c.*1320
. . . . . . g.359267
agctgagtatcaatgtctctgcgttgtacggtggtgatgggttttaatgaatatggaccc c.*1380
. . . . . . g.359327
tgaagcctggaaatcctcatccacgtcgaacccacaggactgtgggaagggcagaatcaa c.*1440
. . . . . . g.359387
tccctaagggaaaggaaacctcaccctgagggcatcacatgcactcatgttcagtgtaca c.*1500
. . . . . . g.359447
caggtcaagtcccttgctctgggctctagttgggagagtggtttcattccaagtgtactc c.*1560
. . . . . . g.359507
cattgtcagtatgctgtttttgtttccttcactccattcaaaaagtcaaaatacaaaatt c.*1620
. . . . . . g.359567
tggcacagcatgccaacgggaggctgtgcccagaccaagcactggaagtgtgcttctagg c.*1680
. . . . . . g.359627
catagtcattggttttgcaaaaagagggctcaaatttaaatagaaatttacagctatttg c.*1740
. . . . . . g.359687
aatggtcagatataccaagaaagaaaaatatttctgttcctcaagaaaacttgctaccct c.*1800
. . . . . . g.359747
ctgtgaggggaattttgctaaacttgacatctttataacatgagccagattgaaagggag c.*1860
. . . . . . g.359807
tgattttcattcatcttaggtcatgttatttcatatttgtttctgaaggtgcgatagctc c.*1920
. . . . . . g.359867
tgttttaggttttgcttgcgcctgttaattactggaacaccttatttttcattaaaggct c.*1980
. . . . . . g.359927
ttgaaagccaattctcaaaaattcaaaagtgcaaattaacagaacaaaaggaaatccagt c.*2040
. . . . . . g.359987
agcaactgcagtcaagcgagggagttgacaagataaaccttacgtccattcaagttatat c.*2100
. . . . . g.360040
gctggcctatgagagatgagagttgggtcgtttgttctctttgttgatgattt c.*2153
(downstream sequence)
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