Canonical Allele Identifier: CA308948059

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2650101
• ClinVar RCV Id: RCV003415317
• dbSNP Id: rs142229130
• gnomAD v2: 19-45855209-G-A
• gnomAD v3: 19-45351951-G-A
• gnomAD v4: 19-45351951-G-A
• MyVariant Identifiers: chr19:g.45855209G>A (hg19) ; chr19:g.45351951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351951G>A , CM000681.2:g.45351951G>A	GRCh38
NC_000019.9:g.45855209G>A , CM000681.1:g.45855209G>A	GRCh37
NC_000019.8:g.50547049G>A	NCBI36
NG_007067.2:g.23637C>T , LRG_461:g.23637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2448C>T	ENSP00000375808.4:p.Asp816=
ENST00000682414.1:c.2191-230C>T	ENSP00000507019.1:n.2191-230C>T
ENST00000682508.1:n.2220-230C>T
ENST00000684218.1:c.*1449-230C>T	ENSP00000507804.1:n.*1449-230C>T
ENST00000684264.1:n.1747-230C>T
ENST00000684407.1:c.2068-230C>T	ENSP00000507775.1:n.2068-230C>T
ENST00000684458.1:c.*677-230C>T	ENSP00000508260.1:n.*677-230C>T
ENST00000684468.1:n.1903-230C>T
ENST00000391945.10:c.2191-230C>T MANE Select	ENSP00000375809.4:n.2191-230C>T
ENST00000646507.1:n.2288-230C>T
ENST00000391942.6:n.1362-230C>T
ENST00000391944.7:c.1957-230C>T	ENSP00000375808.3:n.1957-230C>T
ENST00000391945.8:c.2191-230C>T	ENSP00000375809.3:n.2191-230C>T
ENST00000588652.5:n.2279-230C>T
NM_000400.3:c.2191-230C>T , LRG_461t1:c.2191-230C>T	NP_000391.1:n.2191-230C>T
XM_011526611.1:c.2113-230C>T	XP_011524913.1:n.2113-230C>T
XM_011526611.2:c.2113-230C>T	XP_011524913.1:n.2113-230C>T
XM_017026467.1:c.2068-230C>T	XP_016881956.1:n.2068-230C>T
XR_001753633.2:n.2238-230C>T
XR_001753634.2:n.2174-230C>T
NM_000400.4:c.2191-230C>T MANE Select	NP_000391.1:n.2191-230C>T