Canonical Allele Identifier: CA9512896

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2066011
• ClinVar RCV Id: RCV002948851
• dbSNP Id: rs751956427
• ExAC: 19:45855589 G / A
• gnomAD v2: 19-45855589-G-A
• gnomAD v4: 19-45352331-G-A
• COSMIC: COSM3104029
• MyVariant Identifiers: chr19:g.45855589G>A (hg19) ; chr19:g.45352331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352331G>A , CM000681.2:g.45352331G>A	GRCh38
NC_000019.9:g.45855589G>A , CM000681.1:g.45855589G>A	GRCh37
NC_000019.8:g.50547429G>A	NCBI36
NG_007067.2:g.23257C>T , LRG_461:g.23257C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2068C>T	ENSP00000375808.4:p.Arg690Trp
ENST00000682414.1:c.2068C>T	ENSP00000507019.1:p.Arg690Trp
ENST00000682508.1:n.2097C>T
ENST00000684218.1:c.*1326C>T	ENSP00000507804.1:n.*1326C>T
ENST00000684264.1:n.1624C>T
ENST00000684407.1:c.1945C>T	ENSP00000507775.1:p.Arg649Trp
ENST00000684458.1:c.*554C>T	ENSP00000508260.1:n.*554C>T
ENST00000684468.1:n.1780C>T
ENST00000391945.10:c.2068C>T MANE Select	ENSP00000375809.4:p.Arg690Trp
ENST00000646507.1:n.2165C>T
ENST00000391941.6:c.1996C>T	ENSP00000375805.2:p.Arg666Trp
ENST00000391942.6:n.1239C>T
ENST00000391944.7:c.1834C>T	ENSP00000375808.3:p.Arg612Trp
ENST00000391945.8:c.2068C>T	ENSP00000375809.3:p.Arg690Trp
ENST00000588652.5:n.2156C>T
NM_000400.3:c.2068C>T , LRG_461t1:c.2068C>T	NP_000391.1:p.Arg690Trp
XM_011526611.1:c.1990C>T	XP_011524913.1:p.Arg664Trp
XM_011526611.2:c.1990C>T	XP_011524913.1:p.Arg664Trp
XM_017026467.1:c.1945C>T	XP_016881956.1:p.Arg649Trp
XR_001753633.2:n.2115C>T
XR_001753634.2:n.2051C>T
NM_000400.4:c.2068C>T MANE Select	NP_000391.1:p.Arg690Trp