Canonical Allele Identifier: CA406363060

Gene: ERCC2

Linked Data

• dbSNP Id: rs1435353438
• gnomAD v3: 19-45352561-A-C
• gnomAD v4: 19-45352561-A-C
• MyVariant Identifiers: chr19:g.45855819A>C (hg19) ; chr19:g.45352561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352561A>C , CM000681.2:g.45352561A>C	GRCh38
NC_000019.9:g.45855819A>C , CM000681.1:g.45855819A>C	GRCh37
NC_000019.8:g.50547659A>C	NCBI36
NG_007067.2:g.23027T>G , LRG_461:g.23027T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1991T>G	ENSP00000375808.4:p.Val664Gly
ENST00000682414.1:c.1991T>G	ENSP00000507019.1:p.Val664Gly
ENST00000682508.1:n.2020T>G
ENST00000684218.1:c.*1249T>G	ENSP00000507804.1:n.*1249T>G
ENST00000684264.1:n.1547T>G
ENST00000684407.1:c.1868T>G	ENSP00000507775.1:p.Val623Gly
ENST00000684458.1:c.*477T>G	ENSP00000508260.1:n.*477T>G
ENST00000684468.1:n.1703T>G
ENST00000391945.10:c.1991T>G MANE Select	ENSP00000375809.4:p.Val664Gly
ENST00000646507.1:n.2088T>G
ENST00000391941.6:c.1919T>G	ENSP00000375805.2:p.Val640Gly
ENST00000391942.6:n.1162T>G
ENST00000391944.7:c.1757T>G	ENSP00000375808.3:p.Val586Gly
ENST00000391945.8:c.1991T>G	ENSP00000375809.3:p.Val664Gly
ENST00000588652.5:n.2079T>G
NM_000400.3:c.1991T>G , LRG_461t1:c.1991T>G	NP_000391.1:p.Val664Gly
XM_011526611.1:c.1913T>G	XP_011524913.1:p.Val638Gly
XM_011526611.2:c.1913T>G	XP_011524913.1:p.Val638Gly
XM_017026467.1:c.1868T>G	XP_016881956.1:p.Val623Gly
XR_001753633.2:n.2038T>G
XR_001753634.2:n.1974T>G
NM_000400.4:c.1991T>G MANE Select	NP_000391.1:p.Val664Gly