Canonical Allele Identifier: CA507953284

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971829668
• gnomAD v3: 19-45352254-C-T
• gnomAD v4: 19-45352254-C-T
• MyVariant Identifiers: chr19:g.45855512C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352254C>T , CM000681.2:g.45352254C>T	GRCh38
NC_000019.9:g.45855512C>T , CM000681.1:g.45855512C>T	GRCh37
NC_000019.8:g.50547352C>T	NCBI36
NG_007067.2:g.23334G>A , LRG_461:g.23334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2145G>A	ENSP00000375808.4:p.Gln715=
ENST00000682414.1:c.2145G>A	ENSP00000507019.1:p.Gln715=
ENST00000682508.1:n.2174G>A
ENST00000684218.1:c.*1403G>A	ENSP00000507804.1:n.*1403G>A
ENST00000684264.1:n.1701G>A
ENST00000684407.1:c.2022G>A	ENSP00000507775.1:p.Gln674=
ENST00000684458.1:c.*631G>A	ENSP00000508260.1:n.*631G>A
ENST00000684468.1:n.1857G>A
ENST00000391945.10:c.2145G>A MANE Select	ENSP00000375809.4:p.Gln715=
ENST00000646507.1:n.2242G>A
ENST00000391941.6:c.2073G>A	ENSP00000375805.2:p.Gln691=
ENST00000391942.6:n.1316G>A
ENST00000391944.7:c.1911G>A	ENSP00000375808.3:p.Gln637=
ENST00000391945.8:c.2145G>A	ENSP00000375809.3:p.Gln715=
ENST00000588652.5:n.2233G>A
NM_000400.3:c.2145G>A , LRG_461t1:c.2145G>A	NP_000391.1:p.Gln715=
XM_011526611.1:c.2067G>A	XP_011524913.1:p.Gln689=
XM_011526611.2:c.2067G>A	XP_011524913.1:p.Gln689=
XM_017026467.1:c.2022G>A	XP_016881956.1:p.Gln674=
XR_001753633.2:n.2192G>A
XR_001753634.2:n.2128G>A
NM_000400.4:c.2145G>A MANE Select	NP_000391.1:p.Gln715=