Canonical Allele Identifier: CA406362795
Gene: ERCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.45855781T>G (hg19) chr19:g.45352523T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352523T>G , CM000681.2:g.45352523T>G GRCh38
NC_000019.9:g.45855781T>G , CM000681.1:g.45855781T>G GRCh37
NC_000019.8:g.50547621T>G NCBI36
NG_007067.2:g.23065A>C , LRG_461:g.23065A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2029A>C ENSP00000375808.4:p.Met677Leu
ENST00000682414.1:c.2029A>C ENSP00000507019.1:p.Met677Leu
ENST00000682508.1:n.2058A>C
ENST00000684218.1:c.*1287A>C ENSP00000507804.1:n.*1287A>C
ENST00000684264.1:n.1585A>C
ENST00000684407.1:c.1906A>C ENSP00000507775.1:p.Met636Leu
ENST00000684458.1:c.*515A>C ENSP00000508260.1:n.*515A>C
ENST00000684468.1:n.1741A>C
ENST00000391945.10:c.2029A>C MANE Select ENSP00000375809.4:p.Met677Leu
ENST00000646507.1:n.2126A>C
ENST00000391941.6:c.1957A>C ENSP00000375805.2:p.Met653Leu
ENST00000391942.6:n.1200A>C
ENST00000391944.7:c.1795A>C ENSP00000375808.3:p.Met599Leu
ENST00000391945.8:c.2029A>C ENSP00000375809.3:p.Met677Leu
ENST00000588652.5:n.2117A>C
NM_000400.3:c.2029A>C , LRG_461t1:c.2029A>C NP_000391.1:p.Met677Leu
XM_011526611.1:c.1951A>C XP_011524913.1:p.Met651Leu
XM_011526611.2:c.1951A>C XP_011524913.1:p.Met651Leu
XM_017026467.1:c.1906A>C XP_016881956.1:p.Met636Leu
XR_001753633.2:n.2076A>C
XR_001753634.2:n.2012A>C
NM_000400.4:c.2029A>C MANE Select NP_000391.1:p.Met677Leu
Search 100 bp 5'
Search 100 bp 3'