Canonical Allele Identifier: CA406363240

Gene: ERCC2

Linked Data

• dbSNP Id: rs1329686104
• gnomAD v3: 19-45352585-G-T
• gnomAD v4: 19-45352585-G-T
• MyVariant Identifiers: chr19:g.45855843G>T (hg19) ; chr19:g.45352585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352585G>T , CM000681.2:g.45352585G>T	GRCh38
NC_000019.9:g.45855843G>T , CM000681.1:g.45855843G>T	GRCh37
NC_000019.8:g.50547683G>T	NCBI36
NG_007067.2:g.23003C>A , LRG_461:g.23003C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1967C>A	ENSP00000375808.4:p.Ala656Asp
ENST00000682414.1:c.1967C>A	ENSP00000507019.1:p.Ala656Asp
ENST00000682508.1:n.1996C>A
ENST00000684218.1:c.*1225C>A	ENSP00000507804.1:n.*1225C>A
ENST00000684264.1:n.1523C>A
ENST00000684407.1:c.1844C>A	ENSP00000507775.1:p.Ala615Asp
ENST00000684458.1:c.*453C>A	ENSP00000508260.1:n.*453C>A
ENST00000684468.1:n.1679C>A
ENST00000391945.10:c.1967C>A MANE Select	ENSP00000375809.4:p.Ala656Asp
ENST00000646507.1:n.2064C>A
ENST00000391941.6:c.1895C>A	ENSP00000375805.2:p.Ala632Asp
ENST00000391942.6:n.1138C>A
ENST00000391944.7:c.1733C>A	ENSP00000375808.3:p.Ala578Asp
ENST00000391945.8:c.1967C>A	ENSP00000375809.3:p.Ala656Asp
ENST00000588652.5:n.2055C>A
NM_000400.3:c.1967C>A , LRG_461t1:c.1967C>A	NP_000391.1:p.Ala656Asp
XM_011526611.1:c.1889C>A	XP_011524913.1:p.Ala630Asp
XM_011526611.2:c.1889C>A	XP_011524913.1:p.Ala630Asp
XM_017026467.1:c.1844C>A	XP_016881956.1:p.Ala615Asp
XR_001753633.2:n.2014C>A
XR_001753634.2:n.1950C>A
NM_000400.4:c.1967C>A MANE Select	NP_000391.1:p.Ala656Asp