Canonical Allele Identifier: CA2338388555

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352078A= , CM000681.2:g.45352078A=	GRCh38
NC_000019.9:g.45855336A= , CM000681.1:g.45855336A=	GRCh37
NC_000019.8:g.50547176A=	NCBI36
NG_007067.2:g.23510T= , LRG_461:g.23510T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2321T=	ENSP00000375808.4:p.Val774=
ENST00000682414.1:c.2190+131T=	ENSP00000507019.1:n.2190+131T=
ENST00000682508.1:n.2219+131T=
ENST00000684218.1:c.*1448+131T=	ENSP00000507804.1:n.*1448+131T=
ENST00000684264.1:n.1746+131T=
ENST00000684407.1:c.2067+131T=	ENSP00000507775.1:n.2067+131T=
ENST00000684458.1:c.*676+131T=	ENSP00000508260.1:n.*676+131T=
ENST00000684468.1:n.1902+131T=
ENST00000391945.10:c.2190+131T= MANE Select	ENSP00000375809.4:n.2190+131T=
ENST00000646507.1:n.2287+131T=
ENST00000391942.6:n.1361+131T=
ENST00000391944.7:c.1956+131T=	ENSP00000375808.3:n.1956+131T=
ENST00000391945.8:c.2190+131T=	ENSP00000375809.3:n.2190+131T=
ENST00000588652.5:n.2278+131T=
NM_000400.3:c.2190+131T= , LRG_461t1:c.2190+131T=	NP_000391.1:n.2190+131T=
XM_011526611.1:c.2112+131T=	XP_011524913.1:n.2112+131T=
XM_011526611.2:c.2112+131T=	XP_011524913.1:n.2112+131T=
XM_017026467.1:c.2067+131T=	XP_016881956.1:n.2067+131T=
XR_001753633.2:n.2237+131T=
XR_001753634.2:n.2173+131T=
NM_000400.4:c.2190+131T= MANE Select	NP_000391.1:n.2190+131T=