Canonical Allele Identifier: CA406362407

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971833538
• MyVariant Identifiers: chr19:g.45855582T>C (hg19) ; chr19:g.45352324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352324T>C , CM000681.2:g.45352324T>C	GRCh38
NC_000019.9:g.45855582T>C , CM000681.1:g.45855582T>C	GRCh37
NC_000019.8:g.50547422T>C	NCBI36
NG_007067.2:g.23264A>G , LRG_461:g.23264A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2075A>G	ENSP00000375808.4:p.Lys692Arg
ENST00000682414.1:c.2075A>G	ENSP00000507019.1:p.Lys692Arg
ENST00000682508.1:n.2104A>G
ENST00000684218.1:c.*1333A>G	ENSP00000507804.1:n.*1333A>G
ENST00000684264.1:n.1631A>G
ENST00000684407.1:c.1952A>G	ENSP00000507775.1:p.Lys651Arg
ENST00000684458.1:c.*561A>G	ENSP00000508260.1:n.*561A>G
ENST00000684468.1:n.1787A>G
ENST00000391945.10:c.2075A>G MANE Select	ENSP00000375809.4:p.Lys692Arg
ENST00000646507.1:n.2172A>G
ENST00000391941.6:c.2003A>G	ENSP00000375805.2:p.Lys668Arg
ENST00000391942.6:n.1246A>G
ENST00000391944.7:c.1841A>G	ENSP00000375808.3:p.Lys614Arg
ENST00000391945.8:c.2075A>G	ENSP00000375809.3:p.Lys692Arg
ENST00000588652.5:n.2163A>G
NM_000400.3:c.2075A>G , LRG_461t1:c.2075A>G	NP_000391.1:p.Lys692Arg
XM_011526611.1:c.1997A>G	XP_011524913.1:p.Lys666Arg
XM_011526611.2:c.1997A>G	XP_011524913.1:p.Lys666Arg
XM_017026467.1:c.1952A>G	XP_016881956.1:p.Lys651Arg
XR_001753633.2:n.2122A>G
XR_001753634.2:n.2058A>G
NM_000400.4:c.2075A>G MANE Select	NP_000391.1:p.Lys692Arg