Canonical Allele Identifier: CA2338388875

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352527G= , CM000681.2:g.45352527G=	GRCh38
NC_000019.9:g.45855785G= , CM000681.1:g.45855785G=	GRCh37
NC_000019.8:g.50547625G=	NCBI36
NG_007067.2:g.23061C= , LRG_461:g.23061C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2025C=	ENSP00000375808.4:p.Gly675=
ENST00000682414.1:c.2025C=	ENSP00000507019.1:p.Gly675=
ENST00000682508.1:n.2054C=
ENST00000684218.1:c.*1283C=	ENSP00000507804.1:n.*1283C=
ENST00000684264.1:n.1581C=
ENST00000684407.1:c.1902C=	ENSP00000507775.1:p.Gly634=
ENST00000684458.1:c.*511C=	ENSP00000508260.1:n.*511C=
ENST00000684468.1:n.1737C=
ENST00000391945.10:c.2025C= MANE Select	ENSP00000375809.4:p.Gly675=
ENST00000646507.1:n.2122C=
ENST00000391941.6:c.1953C=	ENSP00000375805.2:p.Gly651=
ENST00000391942.6:n.1196C=
ENST00000391944.7:c.1791C=	ENSP00000375808.3:p.Gly597=
ENST00000391945.8:c.2025C=	ENSP00000375809.3:p.Gly675=
ENST00000588652.5:n.2113C=
NM_000400.3:c.2025C= , LRG_461t1:c.2025C=	NP_000391.1:p.Gly675=
XM_011526611.1:c.1947C=	XP_011524913.1:p.Gly649=
XM_011526611.2:c.1947C=	XP_011524913.1:p.Gly649=
XM_017026467.1:c.1902C=	XP_016881956.1:p.Gly634=
XR_001753633.2:n.2072C=
XR_001753634.2:n.2008C=
NM_000400.4:c.2025C= MANE Select	NP_000391.1:p.Gly675=