Canonical Allele Identifier: CA633480636

Gene: ERCC2

Linked Data

• dbSNP Id: rs1468479613
• gnomAD v2: 19-45867214-A-T
• gnomAD v4: 19-45363956-A-T
• MyVariant Identifiers: chr19:g.45867214A>T (hg19) ; chr19:g.45363956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363956A>T , CM000681.2:g.45363956A>T	GRCh38
NC_000019.9:g.45867214A>T , CM000681.1:g.45867214A>T	GRCh37
NC_000019.8:g.50559054A>T	NCBI36
NG_007067.2:g.11632T>A , LRG_461:g.11632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.949+30T>A	ENSP00000375808.4:n.949+30T>A
ENST00000682414.1:c.949+30T>A	ENSP00000507019.1:n.949+30T>A
ENST00000682508.1:n.978+30T>A
ENST00000684218.1:c.*207+30T>A	ENSP00000507804.1:n.*207+30T>A
ENST00000684407.1:c.826+30T>A	ENSP00000507775.1:n.826+30T>A
ENST00000684458.1:c.949+30T>A	ENSP00000508260.1:n.949+30T>A
ENST00000391945.10:c.949+30T>A MANE Select	ENSP00000375809.4:n.949+30T>A
ENST00000587376.6:c.72+30T>A
ENST00000646507.1:n.1046+30T>A
ENST00000391941.6:c.877+30T>A	ENSP00000375805.2:n.877+30T>A
ENST00000391944.7:c.715+30T>A	ENSP00000375808.3:n.715+30T>A
ENST00000391945.8:c.949+30T>A	ENSP00000375809.3:n.949+30T>A
ENST00000485403.6:c.877+30T>A	ENSP00000431229.2:n.877+30T>A
ENST00000587376.5:c.72+30T>A
NM_000400.3:c.949+30T>A , LRG_461t1:c.949+30T>A	NP_000391.1:n.949+30T>A
NM_001130867.1:c.877+30T>A	NP_001124339.1:n.877+30T>A
XM_011526611.1:c.871+30T>A	XP_011524913.1:n.871+30T>A
XR_935763.1:n.996+30T>A
XM_011526611.2:c.871+30T>A	XP_011524913.1:n.871+30T>A
XM_017026467.1:c.826+30T>A	XP_016881956.1:n.826+30T>A
XR_001753633.2:n.996+30T>A
XR_001753634.2:n.996+30T>A
NM_000400.4:c.949+30T>A MANE Select	NP_000391.1:n.949+30T>A
NM_001130867.2:c.877+30T>A	NP_001124339.1:n.877+30T>A