Canonical Allele Identifier: CA406360942

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2428974
• ClinVar RCV Id: RCV003123215 ; RCV003466016
• dbSNP Id: rs121913018
• COSMIC: COSM1394591
• MyVariant Identifiers: chr19:g.45855484C>T (hg19) ; chr19:g.45352226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352226C>T , CM000681.2:g.45352226C>T	GRCh38
NC_000019.9:g.45855484C>T , CM000681.1:g.45855484C>T	GRCh37
NC_000019.8:g.50547324C>T	NCBI36
NG_007067.2:g.23362G>A , LRG_461:g.23362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2173G>A	ENSP00000375808.4:p.Ala725Thr
ENST00000682414.1:c.2173G>A	ENSP00000507019.1:p.Ala725Thr
ENST00000682508.1:n.2202G>A
ENST00000684218.1:c.*1431G>A	ENSP00000507804.1:n.*1431G>A
ENST00000684264.1:n.1729G>A
ENST00000684407.1:c.2050G>A	ENSP00000507775.1:p.Ala684Thr
ENST00000684458.1:c.*659G>A	ENSP00000508260.1:n.*659G>A
ENST00000684468.1:n.1885G>A
ENST00000391945.10:c.2173G>A MANE Select	ENSP00000375809.4:p.Ala725Thr
ENST00000646507.1:n.2270G>A
ENST00000391941.6:c.2101G>A	ENSP00000375805.2:p.Ala701Thr
ENST00000391942.6:n.1344G>A
ENST00000391944.7:c.1939G>A	ENSP00000375808.3:p.Ala647Thr
ENST00000391945.8:c.2173G>A	ENSP00000375809.3:p.Ala725Thr
ENST00000588652.5:n.2261G>A
NM_000400.3:c.2173G>A , LRG_461t1:c.2173G>A	NP_000391.1:p.Ala725Thr
XM_011526611.1:c.2095G>A	XP_011524913.1:p.Ala699Thr
XM_011526611.2:c.2095G>A	XP_011524913.1:p.Ala699Thr
XM_017026467.1:c.2050G>A	XP_016881956.1:p.Ala684Thr
XR_001753633.2:n.2220G>A
XR_001753634.2:n.2156G>A
NM_000400.4:c.2173G>A MANE Select	NP_000391.1:p.Ala725Thr