Canonical Allele Identifier: CA406373646

Gene: ERCC2

Linked Data

• dbSNP Id: rs1228731328
• gnomAD v2: 19-45867328-C-G
• gnomAD v4: 19-45364070-C-G
• MyVariant Identifiers: chr19:g.45867328C>G (hg19) ; chr19:g.45364070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364070C>G , CM000681.2:g.45364070C>G	GRCh38
NC_000019.9:g.45867328C>G , CM000681.1:g.45867328C>G	GRCh37
NC_000019.8:g.50559168C>G	NCBI36
NG_007067.2:g.11518G>C , LRG_461:g.11518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.865G>C	ENSP00000375808.4:p.Val289Leu
ENST00000682414.1:c.865G>C	ENSP00000507019.1:p.Val289Leu
ENST00000682508.1:n.894G>C
ENST00000684218.1:c.*123G>C	ENSP00000507804.1:n.*123G>C
ENST00000684407.1:c.742G>C	ENSP00000507775.1:p.Val248Leu
ENST00000684458.1:c.865G>C	ENSP00000508260.1:p.Val289Leu
ENST00000391945.10:c.865G>C MANE Select	ENSP00000375809.4:p.Val289Leu
ENST00000586131.6:c.793G>C	ENSP00000464887.1:p.Val265Leu
ENST00000646507.1:n.962G>C
ENST00000391941.6:c.793G>C	ENSP00000375805.2:p.Val265Leu
ENST00000391944.7:c.631G>C	ENSP00000375808.3:p.Val211Leu
ENST00000391945.8:c.865G>C	ENSP00000375809.3:p.Val289Leu
ENST00000485403.6:c.793G>C	ENSP00000431229.2:p.Val265Leu
ENST00000586131.5:c.793G>C	ENSP00000464887.1:p.Val265Leu
ENST00000591309.5:c.*123G>C	ENSP00000465207.1:n.*123G>C
NM_000400.3:c.865G>C , LRG_461t1:c.865G>C	NP_000391.1:p.Val289Leu
NM_001130867.1:c.793G>C	NP_001124339.1:p.Val265Leu
XM_011526611.1:c.787G>C	XP_011524913.1:p.Val263Leu
XR_935763.1:n.912G>C
XM_011526611.2:c.787G>C	XP_011524913.1:p.Val263Leu
XM_017026467.1:c.742G>C	XP_016881956.1:p.Val248Leu
XR_001753633.2:n.912G>C
XR_001753634.2:n.912G>C
NM_000400.4:c.865G>C MANE Select	NP_000391.1:p.Val289Leu
NM_001130867.2:c.793G>C	NP_001124339.1:p.Val265Leu