(used for variant description)
(last modified June 27, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006796.2 in the AFG3L2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023361.1, covering AFG3L2 transcript NM_006796.2.
(upstream sequence)
. g.5014
gccgacgtcagcgc c.-181
. . . . . . g.5074
gccggggcggggctggcggcaggagacgccgcgttgagagcttgggctcctccgtgagcc c.-121
. . . . . . g.5134
gccggcgcgcttcgctgcctggcggcctttccccgagccgagcccgcttcccgaggccgc c.-61
. . . . . . g.5194
cagtcgtcgcctgcccgcgcctgcgcagcgtcccgggccgagagggccacggcggcggcc c.-1
. . . . . . g.5254
ATGGCGCACCGCTGTTTGCGGCTGTGGGGCCGGGGCGGCTGCTGGCCCCGCGGCCTACAG c.60
M A H R C L R L W G R G G C W P R G L Q p.20
. . . . . | 02 . g.10591
CAGCTCCTCGTGCCTGGCGGCGTGGGCCCGGGCGAGCAGCCCTGCCTCCGGACG | CTTTAC c.120
Q L L V P G G V G P G E Q P C L R T | L Y p.40
. . . . . . g.10651
CGATTTGTTACAACTCAAGCAAGGGCCAGCAGAAATTCTCTTTTGACAGATATAATTGCT c.180
R F V T T Q A R A S R N S L L T D I I A p.60
. . . | 03 . . . g.11376
GCTTATCAAAGATTCTGTTCTCGACCCCCAAAAG | GATTTGAAAAATACTTTCCTAATGGA c.240
A Y Q R F C S R P P K G | F E K Y F P N G p.80
. . . . . | 04 . g.14902
AAAAATGGAAAAAAAGCTAGTGAACCTAAAGAAGTTATGGGAGAGAAAAAAG | AATCAAAG c.300
K N G K K A S E P K E V M G E K K E | S K p.100
. . . . . . g.14962
CCAGCTGCTACCACACGCTCTTCTGGAGGAGGAGGTGGTGGCGGTGGAAAACGAGGTGGC c.360
P A A T T R S S G G G G G G G G K R G G p.120
. . . | 05 . . g.15180
AAGAAAGATGATTCTCACTGGTGGTCCAGGTTTCAGAAG | GGTGACATTCCATGGGACGAC c.420
K K D D S H W W S R F Q K | G D I P W D D p.140
. . . . . . g.15240
AAGGATTTCAGGATGTTCTTCCTCTGGACTGCTCTGTTCTGGGGTGGAGTCATGTTTTAC c.480
K D F R M F F L W T A L F W G G V M F Y p.160
. . . . . . g.15300
TTGCTGCTCAAGAGATCCGGGAGAGAAATCACTTGGAAGGACTTTGTCAATAACTATCTT c.540
L L L K R S G R E I T W K D F V N N Y L p.180
. | 06 . . . . . g.18468
TCAAAAGGAGTA | GTAGACAGATTGGAAGTCGTCAACAAGCGTTTTGTTCGAGTGACCTTT c.600
S K G V | V D R L E V V N K R F V R V T F p.200
. . | 07. . . . g.22258
ACACCAGGAAAAACTCCTGTTGATGGG | CAATACGTTTGGTTTAATATTGGCAGTGTGGAC c.660
T P G K T P V D G | Q Y V W F N I G S V D p.220
. . . . . . g.22318
ACCTTTGAACGGAATCTGGAAACTTTACAGCAGGAATTGGGCATAGAAGGAGAAAATCGG c.720
T F E R N L E T L Q Q E L G I E G E N R p.240
. . . | 08 . . . g.23361
GTGCCTGTTGTCTACATTGCTGAAAGTGATGG | CTCTTTTCTGCTGAGCATGCTGCCTACG c.780
V P V V Y I A E S D G | S F L L S M L P T p.260
. . . . . . g.23421
GTGCTCATCATCGCCTTCTTGCTCTACACCATCAGAAGAGGGCCTGCTGGCATTGGCCGG c.840
V L I I A F L L Y T I R R G P A G I G R p.280
. . . . . . g.23481
ACAGGCCGAGGGATGGGCGGACTCTTCAGTGTCGGAGAAACCACTGCCAAGGTCTTAAAG c.900
T G R G M G G L F S V G E T T A K V L K p.300
. . . . . . g.23541
GATGAAATTGATGTGAAGTTCAAAGATGTGGCTGGCTGTGAGGAGGCCAAGCTAGAGATC c.960
D E I D V K F K D V A G C E E A K L E I p.320
. . . . . . g.23601
ATGGAATTTGTGAATTTCTTGAAAAACCCAAAGCAGTATCAAGACCTAGGAGCAAAAATC c.1020
M E F V N F L K N P K Q Y Q D L G A K I p.340
| 09 . . . . . . g.25499
CCAAAG | GGTGCCATTCTCACTGGTCCTCCAGGCACTGGGAAGACGCTGCTAGCTAAGGCC c.1080
P K | G A I L T G P P G T G K T L L A K A p.360
. . . . . . g.25559
ACAGCCGGAGAAGCCAATGTCCCCTTCATCACCGTTAGTGGATCTGAGTTTTTGGAGATG c.1140
T A G E A N V P F I T V S G S E F L E M p.380
. . | 10 . . . . g.29154
TTCGTTGGTGTGGGCCCTGCTAGA | GTCCGAGACTTATTTGCCCTTGCTCGGAAGAATGCC c.1200
F V G V G P A R | V R D L F A L A R K N A p.400
. . . . . . g.29214
CCTTGCATCCTCTTCATCGATGAAATCGATGCGGTGGGAAGGAAGAGAGGAAGAGGCAAC c.1260
P C I L F I D E I D A V G R K R G R G N p.420
. . . . . | 11 g.30865
TTTGGAGGGCAGAGTGAGCAGGAGAACACACTCAACCAGCTGCTGGTGGAGATGGATG | GT c.1320
F G G Q S E Q E N T L N Q L L V E M D G | p.440
. . . . . . g.30925
TTTAATACAACAACAAATGTCGTCATTTTGGCCGGCACCAATCGACCAGATATCCTGGAC c.1380
F N T T T N V V I L A G T N R P D I L D p.460
. . . . | 12 . . g.31080
CCCGCGCTGCTTAGGCCGGGGCGTTTCGACAGGCAGATCTTTATTG | GACCACCAGACATA c.1440
P A L L R P G R F D R Q I F I G | P P D I p.480
. . . . . . g.31140
AAAGGAAGAGCTTCTATTTTCAAAGTTCATCTCCGACCGCTAAAACTGGACAGTACCCTG c.1500
K G R A S I F K V H L R P L K L D S T L p.500
. . . . . | 13 . g.33901
GAGAAGGATAAATTGGCAAGAAAACTGGCATCTTTAACTCCAGGGTTTTCAG | GTGCTGAT c.1560
E K D K L A R K L A S L T P G F S G | A D p.520
. . . . . . g.33961
GTTGCTAATGTCTGTAATGAAGCTGCGTTGATTGCTGCAAGGCATCTGTCAGATTCCATA c.1620
V A N V C N E A A L I A A R H L S D S I p.540
. . . . | 14 . . g.38046
AATCAGAAACACTTTGAACAGGCAATTGAACGAGTGATTGGTG | GCTTAGAGAAGAAAACG c.1680
N Q K H F E Q A I E R V I G G | L E K K T p.560
. . . . . . g.38106
CAGGTTCTGCAGCCTGAGGAGAAGAAGACTGTGGCATACCACGAAGCAGGCCATGCGGTT c.1740
Q V L Q P E E K K T V A Y H E A G H A V p.580
. . . | 15 . . g.41896
GCCGGCTGGTATCTGGAGCACGCAGACCCGCTTTTAAAG | GTATCCATCATCCCACGTGGC c.1800
A G W Y L E H A D P L L K | V S I I P R G p.600
. . . . . . g.41956
AAAGGACTAGGTTATGCTCAGTATTTACCAAAAGAACAATACCTCTATACCAAAGAGCAG c.1860
K G L G Y A Q Y L P K E Q Y L Y T K E Q p.620
. . . . . . g.42016
CTCTTGGATAGGATGTGTATGACTTTAGGTGGTCGAGTCTCTGAAGAAATCTTCTTTGGA c.1920
L L D R M C M T L G G R V S E E I F F G p.640
. . . . . . g.42076
AGAATTACAACTGGTGCTCAAGATGACTTGAGAAAAGTAACTCAGAGTGCATATGCCCAA c.1980
R I T T G A Q D D L R K V T Q S A Y A Q p.660
| 16 . . . . . . g.44801
| ATTGTTCAGTTTGGCATGAATGAAAAGGTTGGGCAAATCTCCTTTGACCTCCCACGTCAG c.2040
| I V Q F G M N E K V G Q I S F D L P R Q p.680
. . . . . . g.44861
GGGGACATGGTATTGGAGAAACCTTACAGTGAAGCCACTGCAAGATTGATAGATGATGAA c.2100
G D M V L E K P Y S E A T A R L I D D E p.700
. . . . . . g.44921
GTACGAATACTTATTAATGATGCTTATAAAAGAACAGTAGCTCTTCTCACAGAAAAGAAA c.2160
V R I L I N D A Y K R T V A L L T E K K p.720
. | 17 . . . . . g.52538
GCTGACGTGGAGAAG | GTTGCTCTTCTGTTGTTAGAAAAAGAAGTATTAGATAAGAATGAT c.2220
A D V E K | V A L L L L E K E V L D K N D p.740
. . . . . . g.52598
ATGGTTGAACTTTTGGGCCCCAGACCATTTGCGGAAAAATCTACCTATGAAGAATTTGTG c.2280
M V E L L G P R P F A E K S T Y E E F V p.760
. . . . . . g.52658
GAAGGCACTGGCAGCTTGGATGAGGACACCTCACTTCCAGAAGGCCTTAAGGACTGGAAC c.2340
E G T G S L D E D T S L P E G L K D W N p.780
. . . . . g.52712
AAGGAGCGGGAAAAGGAGAAAGAGGAGCCCCCGGGTGAGAAAGTTGCCAACTAG c.2394
K E R E K E K E E P P G E K V A N X p.797
. . . . . . g.52772
aggcccagagggaggccatctcagtctgtccactgtggtttcagctggtgcattatttca c.*60
. . . . . . g.52832
gctgtggctttcagaagaatgggaatgctgcgctgattttagccagccactggcccagct c.*120
. . . . . . g.52892
gaaatgatggggaaaggagtccttagtcctttcagcctcagaggtcacagtgggtggcag c.*180
. . . . . . g.52952
gtgactttccggaggccttgagggaaatgcacactgtcccatagcctcattgggctccca c.*240
. . . . . . g.53012
gacgtgctggaaaggttgagcccagagtggccgaggctggaccctgtggcaccaagtggg c.*300
. . . . . . g.53072
gtcggctgaccgtgtggcagggatcgttgcactggactcttggcgtgtgggaagggatgc c.*360
. . . . . . g.53132
tttctctttgtcgcccactcttcattcctgtttctcctcagttcccctgtgcagatgggc c.*420
. . . . . . g.53192
tgtgaaattaaattggagtcttgataagaacattttaatttgacttaatattttaaagat c.*480
. . . . . . g.53252
tgaatccagatcacttgttgctgtcttaatggaatggttttctacaggagctgtaacata c.*540
. . . . . . g.53312
cttaaaaatatgaatgtattatgtaaatatggcttctttacataaaaaataaaatgtcaa c.*600
. . g.53333
cactgtacttttctgaacaca c.*621
(downstream sequence)
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