Canonical Allele Identifier: CA2338389147

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352927T= , CM000681.2:g.45352927T=	GRCh38
NC_000019.9:g.45856185T= , CM000681.1:g.45856185T=	GRCh37
NC_000019.8:g.50548025T=	NCBI36
NG_007067.2:g.22661A= , LRG_461:g.22661A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-111A=	ENSP00000375808.4:n.1832-111A=
ENST00000682414.1:c.1832-111A=	ENSP00000507019.1:n.1832-111A=
ENST00000682508.1:n.1861-111A=
ENST00000684218.1:c.*1090-111A=	ENSP00000507804.1:n.*1090-111A=
ENST00000684264.1:n.1388-111A=
ENST00000684407.1:c.1709-111A=	ENSP00000507775.1:n.1709-111A=
ENST00000684458.1:c.*318-111A=	ENSP00000508260.1:n.*318-111A=
ENST00000684468.1:n.1544-111A=
ENST00000391945.10:c.1832-111A= MANE Select	ENSP00000375809.4:n.1832-111A=
ENST00000646507.1:n.1929-111A=
ENST00000391941.6:c.1760-111A=	ENSP00000375805.2:n.1760-111A=
ENST00000391942.6:n.1003-111A=
ENST00000391944.7:c.1598-111A=	ENSP00000375808.3:n.1598-111A=
ENST00000391945.8:c.1832-111A=	ENSP00000375809.3:n.1832-111A=
ENST00000588652.5:n.1920-111A=
NM_000400.3:c.1832-111A= , LRG_461t1:c.1832-111A=	NP_000391.1:n.1832-111A=
XM_011526611.1:c.1754-111A=	XP_011524913.1:n.1754-111A=
XM_011526611.2:c.1754-111A=	XP_011524913.1:n.1754-111A=
XM_017026467.1:c.1709-111A=	XP_016881956.1:n.1709-111A=
XR_001753633.2:n.1879-111A=
XR_001753634.2:n.1815-111A=
NM_000400.4:c.1832-111A= MANE Select	NP_000391.1:n.1832-111A=