Canonical Allele Identifier: CA406363832

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856043A>T (hg19) ; chr19:g.45352785A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352785A>T , CM000681.2:g.45352785A>T	GRCh38
NC_000019.9:g.45856043A>T , CM000681.1:g.45856043A>T	GRCh37
NC_000019.8:g.50547883A>T	NCBI36
NG_007067.2:g.22803T>A , LRG_461:g.22803T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1863T>A	ENSP00000375808.4:p.Phe621Leu
ENST00000682414.1:c.1863T>A	ENSP00000507019.1:p.Phe621Leu
ENST00000682508.1:n.1892T>A
ENST00000684218.1:c.*1121T>A	ENSP00000507804.1:n.*1121T>A
ENST00000684264.1:n.1419T>A
ENST00000684407.1:c.1740T>A	ENSP00000507775.1:p.Phe580Leu
ENST00000684458.1:c.*349T>A	ENSP00000508260.1:n.*349T>A
ENST00000684468.1:n.1575T>A
ENST00000391945.10:c.1863T>A MANE Select	ENSP00000375809.4:p.Phe621Leu
ENST00000646507.1:n.1960T>A
ENST00000391941.6:c.1791T>A	ENSP00000375805.2:p.Phe597Leu
ENST00000391942.6:n.1034T>A
ENST00000391944.7:c.1629T>A	ENSP00000375808.3:p.Phe543Leu
ENST00000391945.8:c.1863T>A	ENSP00000375809.3:p.Phe621Leu
ENST00000588652.5:n.1951T>A
NM_000400.3:c.1863T>A , LRG_461t1:c.1863T>A	NP_000391.1:p.Phe621Leu
XM_011526611.1:c.1785T>A	XP_011524913.1:p.Phe595Leu
XM_011526611.2:c.1785T>A	XP_011524913.1:p.Phe595Leu
XM_017026467.1:c.1740T>A	XP_016881956.1:p.Phe580Leu
XR_001753633.2:n.1910T>A
XR_001753634.2:n.1846T>A
NM_000400.4:c.1863T>A MANE Select	NP_000391.1:p.Phe621Leu