Canonical Allele Identifier: CA882714741

Gene: ERCC2

Linked Data

• dbSNP Id: rs1217407747
• gnomAD v3: 19-45351939-C-T
• gnomAD v4: 19-45351939-C-T
• MyVariant Identifiers: chr19:g.45855197C>T (hg19) ; chr19:g.45351939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351939C>T , CM000681.2:g.45351939C>T	GRCh38
NC_000019.9:g.45855197C>T , CM000681.1:g.45855197C>T	GRCh37
NC_000019.8:g.50547037C>T	NCBI36
NG_007067.2:g.23649G>A , LRG_461:g.23649G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2460G>A	ENSP00000375808.4:p.Leu820=
ENST00000682414.1:c.2191-218G>A	ENSP00000507019.1:n.2191-218G>A
ENST00000682508.1:n.2220-218G>A
ENST00000684218.1:c.*1449-218G>A	ENSP00000507804.1:n.*1449-218G>A
ENST00000684264.1:n.1747-218G>A
ENST00000684407.1:c.2068-218G>A	ENSP00000507775.1:n.2068-218G>A
ENST00000684458.1:c.*677-218G>A	ENSP00000508260.1:n.*677-218G>A
ENST00000684468.1:n.1903-218G>A
ENST00000391945.10:c.2191-218G>A MANE Select	ENSP00000375809.4:n.2191-218G>A
ENST00000646507.1:n.2288-218G>A
ENST00000391942.6:n.1362-218G>A
ENST00000391944.7:c.1957-218G>A	ENSP00000375808.3:n.1957-218G>A
ENST00000391945.8:c.2191-218G>A	ENSP00000375809.3:n.2191-218G>A
ENST00000588652.5:n.2279-218G>A
NM_000400.3:c.2191-218G>A , LRG_461t1:c.2191-218G>A	NP_000391.1:n.2191-218G>A
XM_011526611.1:c.2113-218G>A	XP_011524913.1:n.2113-218G>A
XM_011526611.2:c.2113-218G>A	XP_011524913.1:n.2113-218G>A
XM_017026467.1:c.2068-218G>A	XP_016881956.1:n.2068-218G>A
XR_001753633.2:n.2238-218G>A
XR_001753634.2:n.2174-218G>A
NM_000400.4:c.2191-218G>A MANE Select	NP_000391.1:n.2191-218G>A