Canonical Allele Identifier: CA406363916

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1327087
• ClinVar RCV Id: RCV001788967
• dbSNP Id: rs1309347920
• gnomAD v2: 19-45856063-C-T
• gnomAD v3: 19-45352805-C-T
• gnomAD v4: 19-45352805-C-T
• MyVariant Identifiers: chr19:g.45856063C>T (hg19) ; chr19:g.45352805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352805C>T , CM000681.2:g.45352805C>T	GRCh38
NC_000019.9:g.45856063C>T , CM000681.1:g.45856063C>T	GRCh37
NC_000019.8:g.50547903C>T	NCBI36
NG_007067.2:g.22783G>A , LRG_461:g.22783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1843G>A	ENSP00000375808.4:p.Gly615Arg
ENST00000682414.1:c.1843G>A	ENSP00000507019.1:p.Gly615Arg
ENST00000682508.1:n.1872G>A
ENST00000684218.1:c.*1101G>A	ENSP00000507804.1:n.*1101G>A
ENST00000684264.1:n.1399G>A
ENST00000684407.1:c.1720G>A	ENSP00000507775.1:p.Gly574Arg
ENST00000684458.1:c.*329G>A	ENSP00000508260.1:n.*329G>A
ENST00000684468.1:n.1555G>A
ENST00000391945.10:c.1843G>A MANE Select	ENSP00000375809.4:p.Gly615Arg
ENST00000646507.1:n.1940G>A
ENST00000391941.6:c.1771G>A	ENSP00000375805.2:p.Gly591Arg
ENST00000391942.6:n.1014G>A
ENST00000391944.7:c.1609G>A	ENSP00000375808.3:p.Gly537Arg
ENST00000391945.8:c.1843G>A	ENSP00000375809.3:p.Gly615Arg
ENST00000588652.5:n.1931G>A
NM_000400.3:c.1843G>A , LRG_461t1:c.1843G>A	NP_000391.1:p.Gly615Arg
XM_011526611.1:c.1765G>A	XP_011524913.1:p.Gly589Arg
XM_011526611.2:c.1765G>A	XP_011524913.1:p.Gly589Arg
XM_017026467.1:c.1720G>A	XP_016881956.1:p.Gly574Arg
XR_001753633.2:n.1890G>A
XR_001753634.2:n.1826G>A
NM_000400.4:c.1843G>A MANE Select	NP_000391.1:p.Gly615Arg