Canonical Allele Identifier: CA158809

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 134114
• ClinVar RCV Id: RCV000120786 ; RCV000358437 ; RCV000896557 ; RCV001843479 ; RCV002256053
• dbSNP Id: rs142936491
• ExAC: 19:45868145 G / A
• gnomAD v2: 19-45868145-G-A
• gnomAD v3: 19-45364887-G-A
• gnomAD v4: 19-45364887-G-A
• MyVariant Identifiers: chr19:g.45868145G>A (hg19) ; chr19:g.45364887G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364887G>A , CM000681.2:g.45364887G>A	GRCh38
NC_000019.9:g.45868145G>A , CM000681.1:g.45868145G>A	GRCh37
NC_000019.8:g.50559985G>A	NCBI36
NG_007067.2:g.10701C>T , LRG_461:g.10701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.545C>T	ENSP00000375808.4:p.Ala182Val
ENST00000682414.1:c.545C>T	ENSP00000507019.1:p.Ala182Val
ENST00000682508.1:n.574C>T
ENST00000684218.1:c.545C>T	ENSP00000507804.1:p.Ala182Val
ENST00000684407.1:c.422C>T	ENSP00000507775.1:p.Ala141Val
ENST00000684458.1:c.545C>T	ENSP00000508260.1:p.Ala182Val
ENST00000391945.10:c.545C>T MANE Select	ENSP00000375809.4:p.Ala182Val
ENST00000586131.6:c.473C>T	ENSP00000464887.1:p.Ala158Val
ENST00000646507.1:n.642C>T
ENST00000391941.6:c.473C>T	ENSP00000375805.2:p.Ala158Val
ENST00000391944.7:c.361-340C>T	ENSP00000375808.3:n.361-340C>T
ENST00000391945.8:c.545C>T	ENSP00000375809.3:p.Ala182Val
ENST00000485403.6:c.473C>T	ENSP00000431229.2:p.Ala158Val
ENST00000586131.5:c.473C>T	ENSP00000464887.1:p.Ala158Val
ENST00000586441.1:n.537C>T
ENST00000586737.5:n.356-556C>T
ENST00000591309.5:c.361-556C>T	ENSP00000465207.1:n.361-556C>T
NM_000400.3:c.545C>T , LRG_461t1:c.545C>T	NP_000391.1:p.Ala182Val
NM_001130867.1:c.473C>T	NP_001124339.1:p.Ala158Val
XM_011526611.1:c.467C>T	XP_011524913.1:p.Ala156Val
XR_935763.1:n.592C>T
XM_011526611.2:c.467C>T	XP_011524913.1:p.Ala156Val
XM_017026467.1:c.422C>T	XP_016881956.1:p.Ala141Val
XR_001753633.2:n.592C>T
XR_001753634.2:n.592C>T
NM_000400.4:c.545C>T MANE Select	NP_000391.1:p.Ala182Val
NM_001130867.2:c.473C>T	NP_001124339.1:p.Ala158Val