Canonical Allele Identifier: CA507818644

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2602333
• ClinVar RCV Id: RCV003351803 ; RCV003777540
• MyVariant Identifiers: chr19:g.45855482T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352224T>C , CM000681.2:g.45352224T>C	GRCh38
NC_000019.9:g.45855482T>C , CM000681.1:g.45855482T>C	GRCh37
NC_000019.8:g.50547322T>C	NCBI36
NG_007067.2:g.23364A>G , LRG_461:g.23364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2175A>G	ENSP00000375808.4:p.Ala725=
ENST00000682414.1:c.2175A>G	ENSP00000507019.1:p.Ala725=
ENST00000682508.1:n.2204A>G
ENST00000684218.1:c.*1433A>G	ENSP00000507804.1:n.*1433A>G
ENST00000684264.1:n.1731A>G
ENST00000684407.1:c.2052A>G	ENSP00000507775.1:p.Ala684=
ENST00000684458.1:c.*661A>G	ENSP00000508260.1:n.*661A>G
ENST00000684468.1:n.1887A>G
ENST00000391945.10:c.2175A>G MANE Select	ENSP00000375809.4:p.Ala725=
ENST00000646507.1:n.2272A>G
ENST00000391941.6:c.2103A>G	ENSP00000375805.2:p.Ala701=
ENST00000391942.6:n.1346A>G
ENST00000391944.7:c.1941A>G	ENSP00000375808.3:p.Ala647=
ENST00000391945.8:c.2175A>G	ENSP00000375809.3:p.Ala725=
ENST00000588652.5:n.2263A>G
NM_000400.3:c.2175A>G , LRG_461t1:c.2175A>G	NP_000391.1:p.Ala725=
XM_011526611.1:c.2097A>G	XP_011524913.1:p.Ala699=
XM_011526611.2:c.2097A>G	XP_011524913.1:p.Ala699=
XM_017026467.1:c.2052A>G	XP_016881956.1:p.Ala684=
XR_001753633.2:n.2222A>G
XR_001753634.2:n.2158A>G
NM_000400.4:c.2175A>G MANE Select	NP_000391.1:p.Ala725=