Canonical Allele Identifier: CA406362214

Gene: ERCC2

Linked Data

• dbSNP Id: rs140296400
• gnomAD v2: 19-45855543-T-G
• gnomAD v4: 19-45352285-T-G
• MyVariant Identifiers: chr19:g.45855543T>G (hg19) ; chr19:g.45352285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352285T>G , CM000681.2:g.45352285T>G	GRCh38
NC_000019.9:g.45855543T>G , CM000681.1:g.45855543T>G	GRCh37
NC_000019.8:g.50547383T>G	NCBI36
NG_007067.2:g.23303A>C , LRG_461:g.23303A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2114A>C	ENSP00000375808.4:p.Asn705Thr
ENST00000682414.1:c.2114A>C	ENSP00000507019.1:p.Asn705Thr
ENST00000682508.1:n.2143A>C
ENST00000684218.1:c.*1372A>C	ENSP00000507804.1:n.*1372A>C
ENST00000684264.1:n.1670A>C
ENST00000684407.1:c.1991A>C	ENSP00000507775.1:p.Asn664Thr
ENST00000684458.1:c.*600A>C	ENSP00000508260.1:n.*600A>C
ENST00000684468.1:n.1826A>C
ENST00000391945.10:c.2114A>C MANE Select	ENSP00000375809.4:p.Asn705Thr
ENST00000646507.1:n.2211A>C
ENST00000391941.6:c.2042A>C	ENSP00000375805.2:p.Asn681Thr
ENST00000391942.6:n.1285A>C
ENST00000391944.7:c.1880A>C	ENSP00000375808.3:p.Asn627Thr
ENST00000391945.8:c.2114A>C	ENSP00000375809.3:p.Asn705Thr
ENST00000588652.5:n.2202A>C
NM_000400.3:c.2114A>C , LRG_461t1:c.2114A>C	NP_000391.1:p.Asn705Thr
XM_011526611.1:c.2036A>C	XP_011524913.1:p.Asn679Thr
XM_011526611.2:c.2036A>C	XP_011524913.1:p.Asn679Thr
XM_017026467.1:c.1991A>C	XP_016881956.1:p.Asn664Thr
XR_001753633.2:n.2161A>C
XR_001753634.2:n.2097A>C
NM_000400.4:c.2114A>C MANE Select	NP_000391.1:p.Asn705Thr