Canonical Allele Identifier: CA406362410

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2566702
• ClinVar RCV Id: RCV003278150
• dbSNP Id: rs1971833538
• MyVariant Identifiers: chr19:g.45855582T>G (hg19) ; chr19:g.45352324T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2075A>C	ENSP00000375808.4:p.Lys692Thr
ENST00000682414.1:c.2075A>C	ENSP00000507019.1:p.Lys692Thr
ENST00000682508.1:n.2104A>C
ENST00000684218.1:c.*1333A>C	ENSP00000507804.1:n.*1333A>C
ENST00000684264.1:n.1631A>C
ENST00000684407.1:c.1952A>C	ENSP00000507775.1:p.Lys651Thr
ENST00000684458.1:c.*561A>C	ENSP00000508260.1:n.*561A>C
ENST00000684468.1:n.1787A>C
ENST00000391945.10:c.2075A>C MANE Select	ENSP00000375809.4:p.Lys692Thr
ENST00000646507.1:n.2172A>C
ENST00000391941.6:c.2003A>C	ENSP00000375805.2:p.Lys668Thr
ENST00000391942.6:n.1246A>C
ENST00000391944.7:c.1841A>C	ENSP00000375808.3:p.Lys614Thr
ENST00000391945.8:c.2075A>C	ENSP00000375809.3:p.Lys692Thr
ENST00000588652.5:n.2163A>C
NM_000400.3:c.2075A>C , LRG_461t1:c.2075A>C	NP_000391.1:p.Lys692Thr
XM_011526611.1:c.1997A>C	XP_011524913.1:p.Lys666Thr
XM_011526611.2:c.1997A>C	XP_011524913.1:p.Lys666Thr
XM_017026467.1:c.1952A>C	XP_016881956.1:p.Lys651Thr
XR_001753633.2:n.2122A>C
XR_001753634.2:n.2058A>C
NM_000400.4:c.2075A>C MANE Select	NP_000391.1:p.Lys692Thr