Canonical Allele Identifier: CA406367038

Gene: ERCC2

Linked Data

• dbSNP Id: rs1972044836
• gnomAD v3: 19-45357304-G-T
• gnomAD v4: 19-45357304-G-T
• MyVariant Identifiers: chr19:g.45860562G>T (hg19) ; chr19:g.45357304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357304G>T , CM000681.2:g.45357304G>T	GRCh38
NC_000019.9:g.45860562G>T , CM000681.1:g.45860562G>T	GRCh37
NC_000019.8:g.50552402G>T	NCBI36
NG_007067.2:g.18284C>A , LRG_461:g.18284C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1445C>A	ENSP00000375808.4:p.Thr482Asn
ENST00000682414.1:c.1445C>A	ENSP00000507019.1:p.Thr482Asn
ENST00000682508.1:n.1474C>A
ENST00000684218.1:c.*703C>A	ENSP00000507804.1:n.*703C>A
ENST00000684264.1:n.1001C>A
ENST00000684407.1:c.1322C>A	ENSP00000507775.1:p.Thr441Asn
ENST00000684458.1:c.1375C>A	ENSP00000508260.1:p.Pro459Thr
ENST00000684468.1:n.1221C>A
ENST00000391945.10:c.1445C>A MANE Select	ENSP00000375809.4:p.Thr482Asn
ENST00000587376.6:c.568C>A
ENST00000646507.1:n.1542C>A
ENST00000391941.6:c.1373C>A	ENSP00000375805.2:p.Thr458Asn
ENST00000391942.6:n.616C>A
ENST00000391944.7:c.1211C>A	ENSP00000375808.3:p.Thr404Asn
ENST00000391945.8:c.1445C>A	ENSP00000375809.3:p.Thr482Asn
ENST00000587376.5:c.568C>A
ENST00000588652.5:n.1533C>A
NM_000400.3:c.1445C>A , LRG_461t1:c.1445C>A	NP_000391.1:p.Thr482Asn
XM_011526611.1:c.1367C>A	XP_011524913.1:p.Thr456Asn
XR_935763.1:n.1492C>A
XM_011526611.2:c.1367C>A	XP_011524913.1:p.Thr456Asn
XM_017026467.1:c.1322C>A	XP_016881956.1:p.Thr441Asn
XR_001753633.2:n.1492C>A
XR_001753634.2:n.1492C>A
NM_000400.4:c.1445C>A MANE Select	NP_000391.1:p.Thr482Asn