Canonical Allele Identifier: CA9513015

Gene: ERCC2

Linked Data

• dbSNP Id: rs749483764
• ExAC: 19:45856021 G / C
• gnomAD v2: 19-45856021-G-C
• gnomAD v4: 19-45352763-G-C
• MyVariant Identifiers: chr19:g.45856021G>C (hg19) ; chr19:g.45352763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352763G>C , CM000681.2:g.45352763G>C	GRCh38
NC_000019.9:g.45856021G>C , CM000681.1:g.45856021G>C	GRCh37
NC_000019.8:g.50547861G>C	NCBI36
NG_007067.2:g.22825C>G , LRG_461:g.22825C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1885C>G	ENSP00000375808.4:p.Gln629Glu
ENST00000682414.1:c.1885C>G	ENSP00000507019.1:p.Gln629Glu
ENST00000682508.1:n.1914C>G
ENST00000684218.1:c.*1143C>G	ENSP00000507804.1:n.*1143C>G
ENST00000684264.1:n.1441C>G
ENST00000684407.1:c.1762C>G	ENSP00000507775.1:p.Gln588Glu
ENST00000684458.1:c.*371C>G	ENSP00000508260.1:n.*371C>G
ENST00000684468.1:n.1597C>G
ENST00000391945.10:c.1885C>G MANE Select	ENSP00000375809.4:p.Gln629Glu
ENST00000646507.1:n.1982C>G
ENST00000391941.6:c.1813C>G	ENSP00000375805.2:p.Gln605Glu
ENST00000391942.6:n.1056C>G
ENST00000391944.7:c.1651C>G	ENSP00000375808.3:p.Gln551Glu
ENST00000391945.8:c.1885C>G	ENSP00000375809.3:p.Gln629Glu
ENST00000588652.5:n.1973C>G
NM_000400.3:c.1885C>G , LRG_461t1:c.1885C>G	NP_000391.1:p.Gln629Glu
XM_011526611.1:c.1807C>G	XP_011524913.1:p.Gln603Glu
XM_011526611.2:c.1807C>G	XP_011524913.1:p.Gln603Glu
XM_017026467.1:c.1762C>G	XP_016881956.1:p.Gln588Glu
XR_001753633.2:n.1932C>G
XR_001753634.2:n.1868C>G
NM_000400.4:c.1885C>G MANE Select	NP_000391.1:p.Gln629Glu