(used for variant description)
(last modified September 29, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_006259.1 in the PRKG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering PRKG2 transcript NM_006259.1.
(upstream sequence)
. g.5014
ggtccctgagcaaa c.-1
. . . . . . g.5074
ATGGGAAATGGTTCAGTGAAACCTAAACATTCTAAGCACCCAGATGGACACTCTGGGAAC c.60
M G N G S V K P K H S K H P D G H S G N p.20
. . . . . . g.5134
CTCACCACTGATGCTCTGCGGAACAAGGTGACAGAGCTGGAGAGAGAGTTGAGGAGGAAG c.120
L T T D A L R N K V T E L E R E L R R K p.40
. . . . . . g.5194
GATGCTGAGATCCAGGAGCGGGAGTACCATTTGAAGGAGCTGCGGGAGCAGCTGTCGAAG c.180
D A E I Q E R E Y H L K E L R E Q L S K p.60
. . . . . . g.5254
CAGACTGTGGCCATTGCTGAACTCACAGAGGAGCTCCAGAACAAGTGCATCCAGCTGAAC c.240
Q T V A I A E L T E E L Q N K C I Q L N p.80
. . . . . . g.5314
AAGCTGCAGGATGTGGTGCATATGCAGGGAGGAAGCCCGCTTCAGGCCTCTCCAGATAAA c.300
K L Q D V V H M Q G G S P L Q A S P D K p.100
. . . . . . g.5374
GTGCCTCTTGAGGTCCACCGGAAGACCTCTGGATTGGTCTCTCTCCATAGCAGGAGGGGA c.360
V P L E V H R K T S G L V S L H S R R G p.120
. . . . . . g.5434
GCAAAGGCTGGCGTGTCTGCTGAGCCAACAACCCGGACCTATGACCTGAACAAACCCCCT c.420
A K A G V S A E P T T R T Y D L N K P P p.140
. . . . | 02 . . g.35121
GAATTTTCCTTTGAGAAAGCAAGAGTCAGAAAAGACTCCAG | TGAGAAGAAGCTCATTACA c.480
E F S F E K A R V R K D S S | E K K L I T p.160
. . . . . . g.35181
GATGCCCTTAATAAAAATCAGTTTCTGAAAAGACTGGATCCTCAGCAGATCAAAGACATG c.540
D A L N K N Q F L K R L D P Q Q I K D M p.180
. . . . . . g.35241
GTGGAATGCATGTATGGGAGAAACTATCAGCAAGGGAGTTACATTATTAAGCAAGGAGAA c.600
V E C M Y G R N Y Q Q G S Y I I K Q G E p.200
. . | 03 . . . g.38289
CCAGGAAACCATATCTTTGTGCTGGCAG | AGGGTCGACTAGAGGTGTTCCAAGGGGAGAAA c.660
P G N H I F V L A E | G R L E V F Q G E K p.220
. . . . . . g.38349
TTGCTGTCCTCCATCCCTATGTGGACCACATTTGGGGAGCTTGCCATTTTATACAATTGT c.720
L L S S I P M W T T F G E L A I L Y N C p.240
. . | 04 . . . . g.40331
ACAAGGACTGCCTCTGTGAAAG | CTATTACCAATGTTAAAACATGGGCACTAGATCGAGAG c.780
T R T A S V K A | I T N V K T W A L D R E p.260
. . . . . . g.40391
GTATTCCAGAATATAATGAGGAGGACAGCCCAAGCTAGAGATGAACAATACAGAAACTTC c.840
V F Q N I M R R T A Q A R D E Q Y R N F p.280
| 05 . . . . . g.42889
CTCAGAAG | TGTATCCTTGCTGAAGAATTTACCTGAAGATAAATTAACCAAGATCATTGAC c.900
L R S | V S L L K N L P E D K L T K I I D p.300
. | 06 . . . . . g.56388
TGCTTGGAAGTG | GAATACTATGACAAAGGAGATTACATCATTAGAGAGGGCGAGGAAGGA c.960
C L E V | E Y Y D K G D Y I I R E G E E G p.320
. . . | 07 . . . g.58037
AGTACCTTTTTCATTTTGGCAAAAGGAAAG | GTAAAAGTAACACAGAGCACAGAAGGCCAT c.1020
S T F F I L A K G K | V K V T Q S T E G H p.340
. . . . . . g.58097
GATCAACCACAGCTGATAAAAACACTGCAGAAAGGAGAATACTTTGGAGAAAAAGCTCTT c.1080
D Q P Q L I K T L Q K G E Y F G E K A L p.360
| 08 . . . . . . g.61164
ATCAG | TGATGATGTCAGGTCAGCTAACATTATTGCTGAAGAAAATGATGTTGCATGCCTG c.1140
I S | D D V R S A N I I A E E N D V A C L p.380
. | 09 . . . . . g.65777
GTTATAGATCGAGA | AACATTCAACCAAACTGTCGGTACATTTGAAGAGCTGCAAAAATAC c.1200
V I D R E | T F N Q T V G T F E E L Q K Y p.400
. . . . . | 10 . g.67121
CTTGAAGGATATGTGGCAAACCTGAACCGTGATGATGAAAAAAGACATGCGAA | GCGGTCC c.1260
L E G Y V A N L N R D D E K R H A K | R S p.420
. . . . . . g.67181
ATGTCTAACTGGAAGCTGTCCAAAGCACTCTCTCTGGAAATGATTCAGCTGAAGGAGAAG c.1320
M S N W K L S K A L S L E M I Q L K E K p.440
. . . . . . g.67241
GTGGCCAGATTTTCCTCATCATCCCCATTCCAGAACCTTGAGATTATTGCAACACTGGGC c.1380
V A R F S S S S P F Q N L E I I A T L G p.460
. . | 11. . . . g.69425
GTTGGTGGGTTCGGAAGAGTTGAGCTT | GTTAAAGTAAAAAATGAGAATGTTGCTTTTGCT c.1440
V G G F G R V E L | V K V K N E N V A F A p.480
. . . . . . g.69485
ATGAAGTGTATAAGGAAGAAGCACATAGTTGACACCAAGCAGCAGGAGCATGTCTACTCA c.1500
M K C I R K K H I V D T K Q Q E H V Y S p.500
. . . . | 12 . . g.72595
GAGAAGAGGATCCTAGAGGAGCTGTGCTCTCCATTCATTGTGAA | ATTATATCGTACTTTC c.1560
E K R I L E E L C S P F I V K | L Y R T F p.520
. . . . . . g.72655
AAGGACAATAAGTATGTATACATGCTTCTGGAGGCCTGCTTAGGTGGGGAGCTCTGGAGT c.1620
K D N K Y V Y M L L E A C L G G E L W S p.540
. | 13 . . . . . g.74811
ATATTAAGGGACAG | AGGCAGCTTTGATGAACCCACCTCCAAATTCTGCGTTGCTTGTGTG c.1680
I L R D R | G S F D E P T S K F C V A C V p.560
. . . . . . g.74871
ACAGAAGCATTTGATTACCTGCATCGACTAGGTATTATCTACAGAGACTTGAAACCAGAA c.1740
T E A F D Y L H R L G I I Y R D L K P E p.580
. . . | 14 . . . g.99474
AACTTAATTCTAGATGCTGAGGGTTACCTTAAATTG | GTTGACTTTGGATTTGCGAAGAAA c.1800
N L I L D A E G Y L K L | V D F G F A K K p.600
. . . . . . g.99534
ATAGGGTCTGGACAGAAAACATGGACATTCTGTGGGACTCCAGAATATGTAGCTCCTGAA c.1860
I G S G Q K T W T F C G T P E Y V A P E p.620
. . . . . . g.99594
GTCATTCTCAACAAGGGACATGACTTCAGTGTGGATTTCTGGTCACTGGGAATTCTAGTG c.1920
V I L N K G H D F S V D F W S L G I L V p.640
. . | 15 . . . . g.104166
TATGAGCTCCTAACGGGCAA | CCCACCCTTTTCTGGGGTTGACCAAATGATGACCTACAAT c.1980
Y E L L T G N | P P F S G V D Q M M T Y N p.660
. . . . . . g.104226
TTGATTCTCAAAGGAATTGAAAAAATGGATTTTCCCAGGAAGATAACACGACGACCTGAG c.2040
L I L K G I E K M D F P R K I T R R P E p.680
. . | 16 . . . . g.105666
GATTTGATTCGGAGGCTTTGCAG | GCAAAATCCAACAGAAAGGCTGGGAAATCTGAAGAAT c.2100
D L I R R L C R | Q N P T E R L G N L K N p.700
. . | 17 . . . . g.117643
GGAATAAATGACATTAAGAAACACAG | GTGGTTAAATGGTTTTAATTGGGAGGGACTGAAA c.2160
G I N D I K K H R | W L N G F N W E G L K p.720
. . . | 18 . . . g.120285
GCACGGAGCCTTCCATCACCTTTGCAAAGAGAG | CTCAAGGGACCCATAGATCACAGCTAC c.2220
A R S L P S P L Q R E | L K G P I D H S Y p.740
. . . . . . g.120345
TTTGACAAATATCCTCCTGAAAAGGGAATGCCTCCAGATGAGCTATCAGGCTGGGATAAA c.2280
F D K Y P P E K G M P P D E L S G W D K p.760
g.120354
GACTTCTGA c.2289
D F X p.762
. . . . . . g.120414
cagaagaaaagttgattactgcctgtactctacagaagaggacctcaaggatcaataatc c.*60
. . . . . . g.120474
caacacattattttcttttcagagtattataatatctttggaagaccattagggaaaaga c.*120
. . . . . . g.120534
aattcctgcacaatgggaagaggagaatggtgtggatatggttctgagttatagtgtctt c.*180
. . . . . . g.120594
atttagatgctgtgaattattgatgtattacattatttgcttttctcaactgctagaggc c.*240
. . . . . . g.120654
taccccattttcctttccacaatcagagccatttttgttaaagtggcagttttttctgca c.*300
. . . . . . g.120714
atctattgttccattccaatcatatccttctcgtttgagtactactaacgtttaaaaagg c.*360
. . . . . . g.120774
gtcttgcccttgaataactaagtcatacaaatagaaggaaaaacaatggtgaattttgga c.*420
. . . . . . g.120834
gagctccccagctctcagcaacttcatataagcatggtggtatcttaaaatggtggtttg c.*480
. . . . . . g.120894
cagaaaccatggtagccaacagaacctcctgactttcacctgcttttaacctgaaaatat c.*540
. . . . . . g.120954
attaatacgcctctgacatgagtccagggagaggcaagattgagcaatagtcagtggcac c.*600
. . . . . . g.121014
catttcctaaagtaactgaatcaatcaatccagtcaggtaattattttctattggggaac c.*660
. . . . . . g.121074
ttagaaaaaaaagtaaagcaagaaatattttctctcctttatgatcagtgataccttaga c.*720
. . . . . . g.121134
gacttttcgaaagtccttgttaaagatagttacaatgtgtggttaaatgatgctaaaata c.*780
. . . . . . g.121194
ttttcacaaccagagtagaaaacgtgctggaacaaaattgcgaaggcttttgcctcccag c.*840
. . . . . . g.121254
taaatagaaaggaaaatatattctagtaggtaagactgctgactctttgaaaatctgagg c.*900
. . . . . . g.121314
tattttgaaaaattctgtgatagttgctattaataaaccaaaattgtatagaatcatcgt c.*960
. . . . . . g.121374
taatttttaatataaatcccattgacaaatgttgatgcactgtagtcactgctgagttaa c.*1020
g.121379
tagcg c.*1025
(downstream sequence)
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