Canonical Allele Identifier: CA507821964

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1766938
• ClinVar RCV Id: RCV002443424
• gnomAD v4: 19-45363993-C-G
• MyVariant Identifiers: chr19:g.45867251C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363993C>G , CM000681.2:g.45363993C>G	GRCh38
NC_000019.9:g.45867251C>G , CM000681.1:g.45867251C>G	GRCh37
NC_000019.8:g.50559091C>G	NCBI36
NG_007067.2:g.11595G>C , LRG_461:g.11595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.942G>C	ENSP00000375808.4:p.Val314=
ENST00000682414.1:c.942G>C	ENSP00000507019.1:p.Val314=
ENST00000682508.1:n.971G>C
ENST00000684218.1:c.*200G>C	ENSP00000507804.1:n.*200G>C
ENST00000684407.1:c.819G>C	ENSP00000507775.1:p.Val273=
ENST00000684458.1:c.942G>C	ENSP00000508260.1:p.Val314=
ENST00000391945.10:c.942G>C MANE Select	ENSP00000375809.4:p.Val314=
ENST00000586131.6:c.870G>C	ENSP00000464887.1:p.Val290=
ENST00000587376.6:c.65G>C
ENST00000646507.1:n.1039G>C
ENST00000391941.6:c.870G>C	ENSP00000375805.2:p.Val290=
ENST00000391944.7:c.708G>C	ENSP00000375808.3:p.Val236=
ENST00000391945.8:c.942G>C	ENSP00000375809.3:p.Val314=
ENST00000485403.6:c.870G>C	ENSP00000431229.2:p.Val290=
ENST00000586131.5:c.870G>C	ENSP00000464887.1:p.Val290=
ENST00000587376.5:c.65G>C
NM_000400.3:c.942G>C , LRG_461t1:c.942G>C	NP_000391.1:p.Val314=
NM_001130867.1:c.870G>C	NP_001124339.1:p.Val290=
XM_011526611.1:c.864G>C	XP_011524913.1:p.Val288=
XR_935763.1:n.989G>C
XM_011526611.2:c.864G>C	XP_011524913.1:p.Val288=
XM_017026467.1:c.819G>C	XP_016881956.1:p.Val273=
XR_001753633.2:n.989G>C
XR_001753634.2:n.989G>C
NM_000400.4:c.942G>C MANE Select	NP_000391.1:p.Val314=
NM_001130867.2:c.870G>C	NP_001124339.1:p.Val290=