Canonical Allele Identifier: CA507953299

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2586789
• ClinVar RCV Id: RCV003341852
• gnomAD v4: 19-45352281-G-C
• MyVariant Identifiers: chr19:g.45855539G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352281G>C , CM000681.2:g.45352281G>C	GRCh38
NC_000019.9:g.45855539G>C , CM000681.1:g.45855539G>C	GRCh37
NC_000019.8:g.50547379G>C	NCBI36
NG_007067.2:g.23307C>G , LRG_461:g.23307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2118C>G	ENSP00000375808.4:p.Leu706=
ENST00000682414.1:c.2118C>G	ENSP00000507019.1:p.Leu706=
ENST00000682508.1:n.2147C>G
ENST00000684218.1:c.*1376C>G	ENSP00000507804.1:n.*1376C>G
ENST00000684264.1:n.1674C>G
ENST00000684407.1:c.1995C>G	ENSP00000507775.1:p.Leu665=
ENST00000684458.1:c.*604C>G	ENSP00000508260.1:n.*604C>G
ENST00000684468.1:n.1830C>G
ENST00000391945.10:c.2118C>G MANE Select	ENSP00000375809.4:p.Leu706=
ENST00000646507.1:n.2215C>G
ENST00000391941.6:c.2046C>G	ENSP00000375805.2:p.Leu682=
ENST00000391942.6:n.1289C>G
ENST00000391944.7:c.1884C>G	ENSP00000375808.3:p.Leu628=
ENST00000391945.8:c.2118C>G	ENSP00000375809.3:p.Leu706=
ENST00000588652.5:n.2206C>G
NM_000400.3:c.2118C>G , LRG_461t1:c.2118C>G	NP_000391.1:p.Leu706=
XM_011526611.1:c.2040C>G	XP_011524913.1:p.Leu680=
XM_011526611.2:c.2040C>G	XP_011524913.1:p.Leu680=
XM_017026467.1:c.1995C>G	XP_016881956.1:p.Leu665=
XR_001753633.2:n.2165C>G
XR_001753634.2:n.2101C>G
NM_000400.4:c.2118C>G MANE Select	NP_000391.1:p.Leu706=