Canonical Allele Identifier: CA406362780

Gene: ERCC2

Linked Data

• dbSNP Id: rs764389114
• gnomAD v4: 19-45352521-C-G
• MyVariant Identifiers: chr19:g.45855779C>G (hg19) ; chr19:g.45352521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352521C>G , CM000681.2:g.45352521C>G	GRCh38
NC_000019.9:g.45855779C>G , CM000681.1:g.45855779C>G	GRCh37
NC_000019.8:g.50547619C>G	NCBI36
NG_007067.2:g.23067G>C , LRG_461:g.23067G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2031G>C	ENSP00000375808.4:p.Met677Ile
ENST00000682414.1:c.2031G>C	ENSP00000507019.1:p.Met677Ile
ENST00000682508.1:n.2060G>C
ENST00000684218.1:c.*1289G>C	ENSP00000507804.1:n.*1289G>C
ENST00000684264.1:n.1587G>C
ENST00000684407.1:c.1908G>C	ENSP00000507775.1:p.Met636Ile
ENST00000684458.1:c.*517G>C	ENSP00000508260.1:n.*517G>C
ENST00000684468.1:n.1743G>C
ENST00000391945.10:c.2031G>C MANE Select	ENSP00000375809.4:p.Met677Ile
ENST00000646507.1:n.2128G>C
ENST00000391941.6:c.1959G>C	ENSP00000375805.2:p.Met653Ile
ENST00000391942.6:n.1202G>C
ENST00000391944.7:c.1797G>C	ENSP00000375808.3:p.Met599Ile
ENST00000391945.8:c.2031G>C	ENSP00000375809.3:p.Met677Ile
ENST00000588652.5:n.2119G>C
NM_000400.3:c.2031G>C , LRG_461t1:c.2031G>C	NP_000391.1:p.Met677Ile
XM_011526611.1:c.1953G>C	XP_011524913.1:p.Met651Ile
XM_011526611.2:c.1953G>C	XP_011524913.1:p.Met651Ile
XM_017026467.1:c.1908G>C	XP_016881956.1:p.Met636Ile
XR_001753633.2:n.2078G>C
XR_001753634.2:n.2014G>C
NM_000400.4:c.2031G>C MANE Select	NP_000391.1:p.Met677Ile