Canonical Allele Identifier: CA406363704

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1692431
• ClinVar RCV Id: RCV002257200 ; RCV003289486
• dbSNP Id: rs1027684347
• gnomAD v3: 19-45352754-T-G
• gnomAD v4: 19-45352754-T-G
• MyVariant Identifiers: chr19:g.45856012T>G (hg19) ; chr19:g.45352754T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352754T>G , CM000681.2:g.45352754T>G	GRCh38
NC_000019.9:g.45856012T>G , CM000681.1:g.45856012T>G	GRCh37
NC_000019.8:g.50547852T>G	NCBI36
NG_007067.2:g.22834A>C , LRG_461:g.22834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1894A>C	ENSP00000375808.4:p.Ile632Leu
ENST00000682414.1:c.1894A>C	ENSP00000507019.1:p.Ile632Leu
ENST00000682508.1:n.1923A>C
ENST00000684218.1:c.*1152A>C	ENSP00000507804.1:n.*1152A>C
ENST00000684264.1:n.1450A>C
ENST00000684407.1:c.1771A>C	ENSP00000507775.1:p.Ile591Leu
ENST00000684458.1:c.*380A>C	ENSP00000508260.1:n.*380A>C
ENST00000684468.1:n.1606A>C
ENST00000391945.10:c.1894A>C MANE Select	ENSP00000375809.4:p.Ile632Leu
ENST00000646507.1:n.1991A>C
ENST00000391941.6:c.1822A>C	ENSP00000375805.2:p.Ile608Leu
ENST00000391942.6:n.1065A>C
ENST00000391944.7:c.1660A>C	ENSP00000375808.3:p.Ile554Leu
ENST00000391945.8:c.1894A>C	ENSP00000375809.3:p.Ile632Leu
ENST00000588652.5:n.1982A>C
NM_000400.3:c.1894A>C , LRG_461t1:c.1894A>C	NP_000391.1:p.Ile632Leu
XM_011526611.1:c.1816A>C	XP_011524913.1:p.Ile606Leu
XM_011526611.2:c.1816A>C	XP_011524913.1:p.Ile606Leu
XM_017026467.1:c.1771A>C	XP_016881956.1:p.Ile591Leu
XR_001753633.2:n.1941A>C
XR_001753634.2:n.1877A>C
NM_000400.4:c.1894A>C MANE Select	NP_000391.1:p.Ile632Leu