Canonical Allele Identifier: CA507953300

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 792925
• ClinVar RCV Id: RCV000976072 ; RCV002416242
• dbSNP Id: rs1438671792
• gnomAD v4: 19-45352284-G-A
• MyVariant Identifiers: chr19:g.45855542G>A (hg19) ; chr19:g.45352284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352284G>A , CM000681.2:g.45352284G>A	GRCh38
NC_000019.9:g.45855542G>A , CM000681.1:g.45855542G>A	GRCh37
NC_000019.8:g.50547382G>A	NCBI36
NG_007067.2:g.23304C>T , LRG_461:g.23304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2115C>T	ENSP00000375808.4:p.Asn705=
ENST00000682414.1:c.2115C>T	ENSP00000507019.1:p.Asn705=
ENST00000682508.1:n.2144C>T
ENST00000684218.1:c.*1373C>T	ENSP00000507804.1:n.*1373C>T
ENST00000684264.1:n.1671C>T
ENST00000684407.1:c.1992C>T	ENSP00000507775.1:p.Asn664=
ENST00000684458.1:c.*601C>T	ENSP00000508260.1:n.*601C>T
ENST00000684468.1:n.1827C>T
ENST00000391945.10:c.2115C>T MANE Select	ENSP00000375809.4:p.Asn705=
ENST00000646507.1:n.2212C>T
ENST00000391941.6:c.2043C>T	ENSP00000375805.2:p.Asn681=
ENST00000391942.6:n.1286C>T
ENST00000391944.7:c.1881C>T	ENSP00000375808.3:p.Asn627=
ENST00000391945.8:c.2115C>T	ENSP00000375809.3:p.Asn705=
ENST00000588652.5:n.2203C>T
NM_000400.3:c.2115C>T , LRG_461t1:c.2115C>T	NP_000391.1:p.Asn705=
XM_011526611.1:c.2037C>T	XP_011524913.1:p.Asn679=
XM_011526611.2:c.2037C>T	XP_011524913.1:p.Asn679=
XM_017026467.1:c.1992C>T	XP_016881956.1:p.Asn664=
XR_001753633.2:n.2162C>T
XR_001753634.2:n.2098C>T
NM_000400.4:c.2115C>T MANE Select	NP_000391.1:p.Asn705=