Canonical Allele Identifier: CA406360909

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3231678
• ClinVar RCV Id: RCV004518394
• MyVariant Identifiers: chr19:g.45855479C>G (hg19) ; chr19:g.45352221C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352221C>G , CM000681.2:g.45352221C>G	GRCh38
NC_000019.9:g.45855479C>G , CM000681.1:g.45855479C>G	GRCh37
NC_000019.8:g.50547319C>G	NCBI36
NG_007067.2:g.23367G>C , LRG_461:g.23367G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2178G>C	ENSP00000375808.4:p.Gln726His
ENST00000682414.1:c.2178G>C	ENSP00000507019.1:p.Gln726His
ENST00000682508.1:n.2207G>C
ENST00000684218.1:c.*1436G>C	ENSP00000507804.1:n.*1436G>C
ENST00000684264.1:n.1734G>C
ENST00000684407.1:c.2055G>C	ENSP00000507775.1:p.Gln685His
ENST00000684458.1:c.*664G>C	ENSP00000508260.1:n.*664G>C
ENST00000684468.1:n.1890G>C
ENST00000391945.10:c.2178G>C MANE Select	ENSP00000375809.4:p.Gln726His
ENST00000646507.1:n.2275G>C
ENST00000391941.6:c.2106G>C	ENSP00000375805.2:p.Gln702His
ENST00000391942.6:n.1349G>C
ENST00000391944.7:c.1944G>C	ENSP00000375808.3:p.Gln648His
ENST00000391945.8:c.2178G>C	ENSP00000375809.3:p.Gln726His
ENST00000588652.5:n.2266G>C
NM_000400.3:c.2178G>C , LRG_461t1:c.2178G>C	NP_000391.1:p.Gln726His
XM_011526611.1:c.2100G>C	XP_011524913.1:p.Gln700His
XM_011526611.2:c.2100G>C	XP_011524913.1:p.Gln700His
XM_017026467.1:c.2055G>C	XP_016881956.1:p.Gln685His
XR_001753633.2:n.2225G>C
XR_001753634.2:n.2161G>C
NM_000400.4:c.2178G>C MANE Select	NP_000391.1:p.Gln726His