Canonical Allele Identifier: CA9512940

Gene: ERCC2

Linked Data

• dbSNP Id: rs754967981
• ExAC: 19:45855800 G / C
• gnomAD v2: 19-45855800-G-C
• gnomAD v4: 19-45352542-G-C
• MyVariant Identifiers: chr19:g.45855800G>C (hg19) ; chr19:g.45352542G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352542G>C , CM000681.2:g.45352542G>C	GRCh38
NC_000019.9:g.45855800G>C , CM000681.1:g.45855800G>C	GRCh37
NC_000019.8:g.50547640G>C	NCBI36
NG_007067.2:g.23046C>G , LRG_461:g.23046C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2010C>G	ENSP00000375808.4:p.Gly670=
ENST00000682414.1:c.2010C>G	ENSP00000507019.1:p.Gly670=
ENST00000682508.1:n.2039C>G
ENST00000684218.1:c.*1268C>G	ENSP00000507804.1:n.*1268C>G
ENST00000684264.1:n.1566C>G
ENST00000684407.1:c.1887C>G	ENSP00000507775.1:p.Gly629=
ENST00000684458.1:c.*496C>G	ENSP00000508260.1:n.*496C>G
ENST00000684468.1:n.1722C>G
ENST00000391945.10:c.2010C>G MANE Select	ENSP00000375809.4:p.Gly670=
ENST00000646507.1:n.2107C>G
ENST00000391941.6:c.1938C>G	ENSP00000375805.2:p.Gly646=
ENST00000391942.6:n.1181C>G
ENST00000391944.7:c.1776C>G	ENSP00000375808.3:p.Gly592=
ENST00000391945.8:c.2010C>G	ENSP00000375809.3:p.Gly670=
ENST00000588652.5:n.2098C>G
NM_000400.3:c.2010C>G , LRG_461t1:c.2010C>G	NP_000391.1:p.Gly670=
XM_011526611.1:c.1932C>G	XP_011524913.1:p.Gly644=
XM_011526611.2:c.1932C>G	XP_011524913.1:p.Gly644=
XM_017026467.1:c.1887C>G	XP_016881956.1:p.Gly629=
XR_001753633.2:n.2057C>G
XR_001753634.2:n.1993C>G
NM_000400.4:c.2010C>G MANE Select	NP_000391.1:p.Gly670=