(used for variant description)
(last modified August 13, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000433.3 in the NCF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering NCF2 transcript NM_000433.3.
(upstream sequence)
. . . g.5352
acactccacccctactcgccctctctctctctgct c.-241
. . . . . . g.5412
tctttccttttctctctcatggtagggttatgagtcagttgccaaaaggtggggacattt c.-181
. . . . . . g.5472
cctgatgcatttgcaacactgagaagttatcttaagggaggctgggccccattctactca c.-121
. . . . . . g.5532
tctggcccagaaagtgaacaccttgggggccactaaggcagccctgctaggggagacgct c.-61
. . . . . . g.5592
ccaacctgtcttctctctgtctcctggcagctctcttggcctcctagtttctacctaatc c.-1
. . . . . . g.5652
ATGTCCCTGGTGGAGGCCATCAGCCTCTGGAATGAAGGGGTGCTGGCAGCGGACAAGAAG c.60
M S L V E A I S L W N E G V L A A D K K p.20
. . . . . . g.5712
GACTGGAAGGGAGCCCTGGATGCCTTCAGTGCCGTCCAGGACCCCCACTCCCGGATTTGC c.120
D W K G A L D A F S A V Q D P H S R I C p.40
. . . . . | 02 . g.8950
TTCAACATTGGCTGCATGTACACTATCCTGAAGAACATGACTGAAGCAGAGAAG | GCCTTT c.180
F N I G C M Y T I L K N M T E A E K | A F p.60
. . . . . . g.9010
ACCAGAAGCATTAACCGAGACAAGCACTTGGCAGTGGCTTACTTCCAACGAGGGATGCTC c.240
T R S I N R D K H L A V A Y F Q R G M L p.80
. | 03. . . . . g.18257
TACTACCAGACAGAGAA | ATATGATTTGGCTATCAAAGACCTTAAAGAAGCCTTGATTCAG c.300
Y Y Q T E K | Y D L A I K D L K E A L I Q p.100
. . . . . . g.18317
CTTCGAGGGAACCAGCTGATAGACTATAAGATCCTGGGGCTCCAGTTCAAGCTGTTTGCC c.360
L R G N Q L I D Y K I L G L Q F K L F A p.120
| 04 . . . . . . g.21354
TGTGAG | GTGTTATATAACATTGCTTTCATGTATGCCAAGAAGGAGGAATGGAAAAAAGCT c.420
C E | V L Y N I A F M Y A K K E E W K K A p.140
. . . . . . g.21414
GAAGAACAGTTAGCATTGGCCACGAGCATGAAGTCTGAGCCCAGACATTCCAAAATCGAC c.480
E E Q L A L A T S M K S E P R H S K I D p.160
. . | 05 . . . . g.22668
AAGGCGATGGAGTGTGTCTGG | AAGCAGAAGCTATATGAGCCAGTGGTGATCCCTGTGGGC c.540
K A M E C V W | K Q K L Y E P V V I P V G p.180
. . . . . . g.22728
AAGCTGTTTCGACCAAATGAGAGACAAGTGGCTCAGCTGGCCAAGAAGGATTACCTAGGC c.600
K L F R P N E R Q V A Q L A K K D Y L G p.200
| 06 . . . . . g.25133
AAGGCGACG | GTCGTGGCATCTGTGGTGGATCAAGACAGTTTCTCTGGGTTTGCCCCTCTG c.660
K A T | V V A S V V D Q D S F S G F A P L p.220
| 07 . . . . | 08 . g.28583
CAACCACAG | GCAGCTGAGCCTCCACCCAGACCGAAAACCCCAGAGATCTTCAG | GGCTCTG c.720
Q P Q | A A E P P P R P K T P E I F R | A L p.240
. . . . . . g.28643
GAAGGGGAGGCTCACCGTGTGCTATTTGGGTTTGTGCCTGAGACAAAAGAAGAGCTCCAG c.780
E G E A H R V L F G F V P E T K E E L Q p.260
. . . . . . g.28703
GTCATGCCAGGGAACATTGTCTTTGTCTTGAAGAAGGGCAATGATAACTGGGCCACGGTC c.840
V M P G N I V F V L K K G N D N W A T V p.280
. | 09 . . . . . g.28978
ATGTTCAACGGGCAG | AAGGGGCTTGTTCCCTGCAACTACCTTGAACCAGTTGAGCTGCGG c.900
M F N G Q | K G L V P C N Y L E P V E L R p.300
. . | 10 . . . . g.30178
ATCCACCCTCAGCAGCAGCCCCAG | GAGGAAAGCTCTCCGCAGTCCGACATCCCAGCTCCT c.960
I H P Q Q Q P Q | E E S S P Q S D I P A P p.320
. . . . | 11 . . g.31911
CCTAGTTCCAAAGCCCCTGGAAGACCCCAGCTGTCACCAG | GCCAGAAACAAAAAGAAGAG c.1020
P S S K A P G R P Q L S P G | Q K Q K E E p.340
| 12 . . . . . . g.32390
CCTAAG | GAAGTGAAGCTCAGTGTTCCCATGCCCTACACACTCAAGGTGCACTACAAGTAC c.1080
P K | E V K L S V P M P Y T L K V H Y K Y p.360
. . . . . . g.32450
ACGGTAGTCATGAAGACTCAGCCCGGGCTCCCCTACAGCCAGGTCCGGGACATGGTGTCT c.1140
T V V M K T Q P G L P Y S Q V R D M V S p.380
. . . | 13 . . g.32637
AAGAAACTGGAGCTCCGGCTGGAACACACTAAGCTGAG | CTATCGGCCTCGGGACAGCAAT c.1200
K K L E L R L E H T K L S | Y R P R D S N p.400
. . . . . . g.32697
GAGCTGGTGCCCCTTTCAGAAGACAGCATGAAGGATGCCTGGGGCCAGGTGAAAAACTAC c.1260
E L V P L S E D S M K D A W G Q V K N Y p.420
. . . | 14 . . . g.35678
TGCCTGACTCTGTGGTGTGAGAACACAGTG | GGTGACCAAGGCTTTCCAGATGAACCCAAG c.1320
C L T L W C E N T V | G D Q G F P D E P K p.440
. . . . . . g.35738
GAAAGTGAAAAAGCTGATGCTAATAACCAGACAACAGAACCTCAGCTTAAGAAAGGCAGC c.1380
E S E K A D A N N Q T T E P Q L K K G S p.460
. . . . . . g.35798
CAAGTGGAGGCACTCTTCAGTTATGAGGCTACCCAACCAGAGGACCTGGAGTTTCAGGAA c.1440
Q V E A L F S Y E A T Q P E D L E F Q E p.480
. . | 15 . . . g.39723
GGGGATATAATCCTGGTGTTATCAAAGG | TGAATGAAGAATGGCTGGAAGGGGAGTGCAAA c.1500
G D I I L V L S K V | N E E W L E G E C K p.500
. . . . . . g.39783
GGGAAGGTGGGCATTTTCCCCAAAGTTTTTGTTGAAGACTGCGCAACTACAGATTTGGAA c.1560
G K V G I F P K V F V E D C A T T D L E p.520
. . g.39804
AGCACTCGGAGAGAAGTCTAG c.1581
S T R R E V X p.526
. . . . . . g.39864
gatgtttcacaaactacaaagctgaagaaaatgaagccctattacttgtttgtaagattt c.*60
. . . . . . g.39924
agcacccttctgctgtatactgtactgagacattacagtttggaagtgttaactatttat c.*120
. . . . . . g.39984
tccctgttaaaatttaacctactagacaatgatgtgagtacccaggatgatttcctgggg c.*180
. . . . . . g.40044
cacagtgggtgaggagatggggacaggtgaatggaggagttaggggagaggaaaagtgga c.*240
. . . . . . g.40104
tggaagtgtctggaaagggcacgagagagtcttccaggtactgatcctgtttcttgctct c.*300
. . . . . . g.40164
gagtgctagctagccagctgtgttcacactgtaaacattcatcaagctgtacatttggtg c.*360
. . . . . . g.40224
cacttttctgtgtcataccacaataaaaaaaaacctagcatcttacaaaaacaagacacc c.*420
. . . . . . g.40284
caagtccaggcccaaggagtaagtacaaatattcctgtttctgaaccattactgtaattg c.*480
. . . . . . g.40344
gctcttaaggcttgaagtaaccttataggttactcataaggcatatacaaataaacttgt c.*540
. g.40360
ttgttttcttttttca c.*556
(downstream sequence)
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