(used for variant description)
(last modified May 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_181471.2 in the RFC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008102.1, covering RFC2 transcript NM_181471.2.
(upstream sequence)
. g.4965
ggaagccagggggcg c.-61
. . . . . . g.5025
gggcttgcgtggcggcgtcaaggggcggtgcctcgggtggcgggaagaggaggcgcgaga c.-1
. . . . . . g.5085
ATGGAGGTGGAGGCCGTCTGTGGTGGCGCGGGCGAGGTGGAGGCCCAGGACTCTGACCCT c.60
M E V E A V C G G A G E V E A Q D S D P p.20
. . . . . | 02 . g.6917
GCCCCTGCCTTCAGCAAGGCCCCCGGCAGCGCCGGCCACTACGAACTGCCGTG | GGTTGAA c.120
A P A F S K A P G S A G H Y E L P W | V E p.40
. . . . . . g.6977
AAATATAGGCCAGTAAAGCTGAATGAAATTGTCGGGAATGAAGACACCGTGAGCAGGCTA c.180
K Y R P V K L N E I V G N E D T V S R L p.60
| 03 . . . . | 04 . . g.10305
GAG | GTCTTTGCAAGGGAAGGAAATGTGCCCAACATCATCATTGCG | GGCCCTCCAGGAACC c.240
E | V F A R E G N V P N I I I A | G P P G T p.80
. . . . . . g.10365
GGCAAGACCACAAGCATTCTGTGCTTGGCCCGGGCCCTGCTGGGCCCAGCACTCAAAGAT c.300
G K T T S I L C L A R A L L G P A L K D p.100
. . . | 05 . . . g.12673
GCCATGTTGGAACTCAATGCTTCAAATGACAG | GGGCATTGACGTTGTGAGGAATAAAATT c.360
A M L E L N A S N D R | G I D V V R N K I p.120
. . . . . . g.12733
AAAATGTTTGCTCAACAAAAAGTCACTCTTCCCAAAGGCCGACATAAGATCATCATTCTG c.420
K M F A Q Q K V T L P K G R H K I I I L p.140
. | 06 . . . . . g.16208
GATGAAGCAGACAG | CATGACCGACGGAGCCCAGCAAGCCTTGAGGAGAACCATGGAAATC c.480
D E A D S | M T D G A Q Q A L R R T M E I p.160
. . . . . | 07 . g.19318
TACTCTAAAACCACTCGCTTCGCCCTTGCTTGTAATGCTTCGGATAAGATCATCG | AGCCC c.540
Y S K T T R F A L A C N A S D K I I E | P p.180
. . . . . . g.19378
ATTCAGTCCCGCTGTGCAGTCCTCCGGTACACAAAGCTGACCGACGCCCAGATCCTCACC c.600
I Q S R C A V L R Y T K L T D A Q I L T p.200
. . . . . . g.19438
AGGCTGATGAATGTTATCGAGAAGGAGAGGGTACCCTACACTGATGACGGCCTAGAAGCC c.660
R L M N V I E K E R V P Y T D D G L E A p.220
. . . | 08 . . . g.20447
ATCATCTTCACGGCCCAGGGAGACATGAGGCAG | GCGCTGAACAACCTGCAGTCCACCTTC c.720
I I F T A Q G D M R Q | A L N N L Q S T F p.240
. . . | 09 . . g.21987
TCAGGATTTGGCTTCATTAACAGTGAGAACGTGTTCAAG | GTCTGTGACGAGCCCCACCCA c.780
S G F G F I N S E N V F K | V C D E P H P p.260
. . . . . . g.22047
CTGCTGGTAAAGGAGATGATCCAGCACTGTGTGAATGCCAACATTGACGAAGCCTACAAG c.840
L L V K E M I Q H C V N A N I D E A Y K p.280
| 10 . . . . . . g.23823
| ATTCTTGCTCACTTGTGGCATCTGGGCTACTCACCAGAAGATATCATTGGCAACATCTTT c.900
| I L A H L W H L G Y S P E D I I G N I F p.300
. . . . . | 11 . g.27198
CGAGTGTGTAAAACTTTCCAAATGGCAGAATACCTGAAACTGGAGTTTATCAAG | GAAATT c.960
R V C K T F Q M A E Y L K L E F I K | E I p.320
. . . . . . g.27258
GGATACACTCACATGAAAATAGCGGAAGGAGTGAACTCTCTTTTGCAGATGGCAGGCCTC c.1020
G Y T H M K I A E G V N S L L Q M A G L p.340
. . . . g.27303
CTGGCAAGGCTGTGTCAGAAGACAATGGCCCCGGTGGCCAGTTAG c.1065
L A R L C Q K T M A P V A S X p.354
. . . . . . g.27363
agcagagacttcactgactgacttacaggtgccctattctgaggtacaggagccgcggct c.*60
. . . . . . g.27423
ttctgatgggggaaaatgccgccttaggctggagccaacatgactgtcctttaaactcca c.*120
. . . . . . g.27483
gtggctggccaggcacggtagctcacgcctgtaatcccaacactttgggaggccgaggca c.*180
. . . . . . g.27543
ggtggatcacctgaggtcagaagttcaagaccagcctggccaacatggggaaaccctgtc c.*240
. . . . . . g.27603
tttactaaaaatataaaaattagctgggtgtggtggcgggcacctgtaatcccagctact c.*300
. . . . . . g.27663
cgggaggctgtggcaggagaatcgcttgaacccaggaggtggaggttgcagtgagccaag c.*360
. . . . . . g.27723
atcacaccattgcactccagcctgggcgacagagtctccatctggggaaaaaaattaaat c.*420
. . . . . . g.27783
aaataaactcccgtgacttgcatgtttgcttctgggacgtctgtgccccgcaagtgtttg c.*480
. . . . . . g.27843
agtttggcctccaccccattgatgcggtgacggggcggaaaggcgcagagaagctgaggg c.*540
. . . . . . g.27903
cggtctctgatctgtgtgtgggttgacattttagctaataaagccttgcagtgtttgttg c.*600
g.27907
gcaa c.*604
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center