Canonical Allele Identifier: CA507818796

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1781094
• ClinVar RCV Id: RCV002412781 ; RCV003730192
• dbSNP Id: rs1430853933
• gnomAD v3: 19-45352809-G-A
• gnomAD v4: 19-45352809-G-A
• MyVariant Identifiers: chr19:g.45856067G>A (hg19) ; chr19:g.45352809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352809G>A , CM000681.2:g.45352809G>A	GRCh38
NC_000019.9:g.45856067G>A , CM000681.1:g.45856067G>A	GRCh37
NC_000019.8:g.50547907G>A	NCBI36
NG_007067.2:g.22779C>T , LRG_461:g.22779C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1839C>T	ENSP00000375808.4:p.His613=
ENST00000682414.1:c.1839C>T	ENSP00000507019.1:p.His613=
ENST00000682508.1:n.1868C>T
ENST00000684218.1:c.*1097C>T	ENSP00000507804.1:n.*1097C>T
ENST00000684264.1:n.1395C>T
ENST00000684407.1:c.1716C>T	ENSP00000507775.1:p.His572=
ENST00000684458.1:c.*325C>T	ENSP00000508260.1:n.*325C>T
ENST00000684468.1:n.1551C>T
ENST00000391945.10:c.1839C>T MANE Select	ENSP00000375809.4:p.His613=
ENST00000646507.1:n.1936C>T
ENST00000391941.6:c.1767C>T	ENSP00000375805.2:p.His589=
ENST00000391942.6:n.1010C>T
ENST00000391944.7:c.1605C>T	ENSP00000375808.3:p.His535=
ENST00000391945.8:c.1839C>T	ENSP00000375809.3:p.His613=
ENST00000588652.5:n.1927C>T
NM_000400.3:c.1839C>T , LRG_461t1:c.1839C>T	NP_000391.1:p.His613=
XM_011526611.1:c.1761C>T	XP_011524913.1:p.His587=
XM_011526611.2:c.1761C>T	XP_011524913.1:p.His587=
XM_017026467.1:c.1716C>T	XP_016881956.1:p.His572=
XR_001753633.2:n.1886C>T
XR_001753634.2:n.1822C>T
NM_000400.4:c.1839C>T MANE Select	NP_000391.1:p.His613=