Canonical Allele Identifier: CA9512931

Gene: ERCC2

Linked Data

• dbSNP Id: rs760100099
• ExAC: 19:45855765 T / G
• MyVariant Identifiers: chr19:g.45855765T>G (hg19) ; chr19:g.45352507T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352507T>G , CM000681.2:g.45352507T>G	GRCh38
NC_000019.9:g.45855765T>G , CM000681.1:g.45855765T>G	GRCh37
NC_000019.8:g.50547605T>G	NCBI36
NG_007067.2:g.23081A>C , LRG_461:g.23081A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2045A>C	ENSP00000375808.4:p.Lys682Thr
ENST00000682414.1:c.2045A>C	ENSP00000507019.1:p.Lys682Thr
ENST00000682508.1:n.2074A>C
ENST00000684218.1:c.*1303A>C	ENSP00000507804.1:n.*1303A>C
ENST00000684264.1:n.1601A>C
ENST00000684407.1:c.1922A>C	ENSP00000507775.1:p.Lys641Thr
ENST00000684458.1:c.*531A>C	ENSP00000508260.1:n.*531A>C
ENST00000684468.1:n.1757A>C
ENST00000391945.10:c.2045A>C MANE Select	ENSP00000375809.4:p.Lys682Thr
ENST00000646507.1:n.2142A>C
ENST00000391941.6:c.1973A>C	ENSP00000375805.2:p.Lys658Thr
ENST00000391942.6:n.1216A>C
ENST00000391944.7:c.1811A>C	ENSP00000375808.3:p.Lys604Thr
ENST00000391945.8:c.2045A>C	ENSP00000375809.3:p.Lys682Thr
ENST00000588652.5:n.2133A>C
NM_000400.3:c.2045A>C , LRG_461t1:c.2045A>C	NP_000391.1:p.Lys682Thr
XM_011526611.1:c.1967A>C	XP_011524913.1:p.Lys656Thr
XM_011526611.2:c.1967A>C	XP_011524913.1:p.Lys656Thr
XM_017026467.1:c.1922A>C	XP_016881956.1:p.Lys641Thr
XR_001753633.2:n.2092A>C
XR_001753634.2:n.2028A>C
NM_000400.4:c.2045A>C MANE Select	NP_000391.1:p.Lys682Thr