Canonical Allele Identifier: CA406363488

Gene: ERCC2

Linked Data

• dbSNP Id: rs1325011325
• gnomAD v2: 19-45855881-C-G
• gnomAD v4: 19-45352623-C-G
• MyVariant Identifiers: chr19:g.45855881C>G (hg19) ; chr19:g.45352623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352623C>G , CM000681.2:g.45352623C>G	GRCh38
NC_000019.9:g.45855881C>G , CM000681.1:g.45855881C>G	GRCh37
NC_000019.8:g.50547721C>G	NCBI36
NG_007067.2:g.22965G>C , LRG_461:g.22965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1929G>C	ENSP00000375808.4:p.Gln643His
ENST00000682414.1:c.1929G>C	ENSP00000507019.1:p.Gln643His
ENST00000682508.1:n.1958G>C
ENST00000684218.1:c.*1187G>C	ENSP00000507804.1:n.*1187G>C
ENST00000684264.1:n.1485G>C
ENST00000684407.1:c.1806G>C	ENSP00000507775.1:p.Gln602His
ENST00000684458.1:c.*415G>C	ENSP00000508260.1:n.*415G>C
ENST00000684468.1:n.1641G>C
ENST00000391945.10:c.1929G>C MANE Select	ENSP00000375809.4:p.Gln643His
ENST00000646507.1:n.2026G>C
ENST00000391941.6:c.1857G>C	ENSP00000375805.2:p.Gln619His
ENST00000391942.6:n.1100G>C
ENST00000391944.7:c.1695G>C	ENSP00000375808.3:p.Gln565His
ENST00000391945.8:c.1929G>C	ENSP00000375809.3:p.Gln643His
ENST00000588652.5:n.2017G>C
NM_000400.3:c.1929G>C , LRG_461t1:c.1929G>C	NP_000391.1:p.Gln643His
XM_011526611.1:c.1851G>C	XP_011524913.1:p.Gln617His
XM_011526611.2:c.1851G>C	XP_011524913.1:p.Gln617His
XM_017026467.1:c.1806G>C	XP_016881956.1:p.Gln602His
XR_001753633.2:n.1976G>C
XR_001753634.2:n.1912G>C
NM_000400.4:c.1929G>C MANE Select	NP_000391.1:p.Gln643His