Canonical Allele Identifier: CA633480635

Gene: ERCC2

Linked Data

• dbSNP Id: rs1280070019
• gnomAD v2: 19-45867211-G-A
• gnomAD v4: 19-45363953-G-A
• MyVariant Identifiers: chr19:g.45867211G>A (hg19) ; chr19:g.45363953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363953G>A , CM000681.2:g.45363953G>A	GRCh38
NC_000019.9:g.45867211G>A , CM000681.1:g.45867211G>A	GRCh37
NC_000019.8:g.50559051G>A	NCBI36
NG_007067.2:g.11635C>T , LRG_461:g.11635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.949+33C>T	ENSP00000375808.4:n.949+33C>T
ENST00000682414.1:c.949+33C>T	ENSP00000507019.1:n.949+33C>T
ENST00000682508.1:n.978+33C>T
ENST00000684218.1:c.*207+33C>T	ENSP00000507804.1:n.*207+33C>T
ENST00000684407.1:c.826+33C>T	ENSP00000507775.1:n.826+33C>T
ENST00000684458.1:c.949+33C>T	ENSP00000508260.1:n.949+33C>T
ENST00000391945.10:c.949+33C>T MANE Select	ENSP00000375809.4:n.949+33C>T
ENST00000587376.6:c.72+33C>T
ENST00000646507.1:n.1046+33C>T
ENST00000391941.6:c.877+33C>T	ENSP00000375805.2:n.877+33C>T
ENST00000391944.7:c.715+33C>T	ENSP00000375808.3:n.715+33C>T
ENST00000391945.8:c.949+33C>T	ENSP00000375809.3:n.949+33C>T
ENST00000485403.6:c.877+33C>T	ENSP00000431229.2:n.877+33C>T
ENST00000587376.5:c.72+33C>T
NM_000400.3:c.949+33C>T , LRG_461t1:c.949+33C>T	NP_000391.1:n.949+33C>T
NM_001130867.1:c.877+33C>T	NP_001124339.1:n.877+33C>T
XM_011526611.1:c.871+33C>T	XP_011524913.1:n.871+33C>T
XR_935763.1:n.996+33C>T
XM_011526611.2:c.871+33C>T	XP_011524913.1:n.871+33C>T
XM_017026467.1:c.826+33C>T	XP_016881956.1:n.826+33C>T
XR_001753633.2:n.996+33C>T
XR_001753634.2:n.996+33C>T
NM_000400.4:c.949+33C>T MANE Select	NP_000391.1:n.949+33C>T
NM_001130867.2:c.877+33C>T	NP_001124339.1:n.877+33C>T