Canonical Allele Identifier: CA406363275

Gene: ERCC2

Linked Data

• dbSNP Id: rs1411740455
• gnomAD v4: 19-45352589-C-T
• MyVariant Identifiers: chr19:g.45855847C>T (hg19) ; chr19:g.45352589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352589C>T , CM000681.2:g.45352589C>T	GRCh38
NC_000019.9:g.45855847C>T , CM000681.1:g.45855847C>T	GRCh37
NC_000019.8:g.50547687C>T	NCBI36
NG_007067.2:g.22999G>A , LRG_461:g.22999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1963G>A	ENSP00000375808.4:p.Asp655Asn
ENST00000682414.1:c.1963G>A	ENSP00000507019.1:p.Asp655Asn
ENST00000682508.1:n.1992G>A
ENST00000684218.1:c.*1221G>A	ENSP00000507804.1:n.*1221G>A
ENST00000684264.1:n.1519G>A
ENST00000684407.1:c.1840G>A	ENSP00000507775.1:p.Asp614Asn
ENST00000684458.1:c.*449G>A	ENSP00000508260.1:n.*449G>A
ENST00000684468.1:n.1675G>A
ENST00000391945.10:c.1963G>A MANE Select	ENSP00000375809.4:p.Asp655Asn
ENST00000646507.1:n.2060G>A
ENST00000391941.6:c.1891G>A	ENSP00000375805.2:p.Asp631Asn
ENST00000391942.6:n.1134G>A
ENST00000391944.7:c.1729G>A	ENSP00000375808.3:p.Asp577Asn
ENST00000391945.8:c.1963G>A	ENSP00000375809.3:p.Asp655Asn
ENST00000588652.5:n.2051G>A
NM_000400.3:c.1963G>A , LRG_461t1:c.1963G>A	NP_000391.1:p.Asp655Asn
XM_011526611.1:c.1885G>A	XP_011524913.1:p.Asp629Asn
XM_011526611.2:c.1885G>A	XP_011524913.1:p.Asp629Asn
XM_017026467.1:c.1840G>A	XP_016881956.1:p.Asp614Asn
XR_001753633.2:n.2010G>A
XR_001753634.2:n.1946G>A
NM_000400.4:c.1963G>A MANE Select	NP_000391.1:p.Asp655Asn