Canonical Allele Identifier: CA308950670

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3231670
• ClinVar RCV Id: RCV004518386
• dbSNP Id: rs113157435
• gnomAD v4: 19-45352524-G-A
• MyVariant Identifiers: chr19:g.45855782G>A (hg19) ; chr19:g.45352524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352524G>A , CM000681.2:g.45352524G>A	GRCh38
NC_000019.9:g.45855782G>A , CM000681.1:g.45855782G>A	GRCh37
NC_000019.8:g.50547622G>A	NCBI36
NG_007067.2:g.23064C>T , LRG_461:g.23064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2028C>T	ENSP00000375808.4:p.Leu676=
ENST00000682414.1:c.2028C>T	ENSP00000507019.1:p.Leu676=
ENST00000682508.1:n.2057C>T
ENST00000684218.1:c.*1286C>T	ENSP00000507804.1:n.*1286C>T
ENST00000684264.1:n.1584C>T
ENST00000684407.1:c.1905C>T	ENSP00000507775.1:p.Leu635=
ENST00000684458.1:c.*514C>T	ENSP00000508260.1:n.*514C>T
ENST00000684468.1:n.1740C>T
ENST00000391945.10:c.2028C>T MANE Select	ENSP00000375809.4:p.Leu676=
ENST00000646507.1:n.2125C>T
ENST00000391941.6:c.1956C>T	ENSP00000375805.2:p.Leu652=
ENST00000391942.6:n.1199C>T
ENST00000391944.7:c.1794C>T	ENSP00000375808.3:p.Leu598=
ENST00000391945.8:c.2028C>T	ENSP00000375809.3:p.Leu676=
ENST00000588652.5:n.2116C>T
NM_000400.3:c.2028C>T , LRG_461t1:c.2028C>T	NP_000391.1:p.Leu676=
XM_011526611.1:c.1950C>T	XP_011524913.1:p.Leu650=
XM_011526611.2:c.1950C>T	XP_011524913.1:p.Leu650=
XM_017026467.1:c.1905C>T	XP_016881956.1:p.Leu635=
XR_001753633.2:n.2075C>T
XR_001753634.2:n.2011C>T
NM_000400.4:c.2028C>T MANE Select	NP_000391.1:p.Leu676=