Canonical Allele Identifier: CA406373122

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3231723
• ClinVar RCV Id: RCV004518438
• gnomAD v4: 19-45363899-C-T
• MyVariant Identifiers: chr19:g.45867157C>T (hg19) ; chr19:g.45363899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363899C>T , CM000681.2:g.45363899C>T	GRCh38
NC_000019.9:g.45867157C>T , CM000681.1:g.45867157C>T	GRCh37
NC_000019.8:g.50558997C>T	NCBI36
NG_007067.2:g.11689G>A , LRG_461:g.11689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.962G>A	ENSP00000375808.4:p.Gly321Asp
ENST00000682414.1:c.962G>A	ENSP00000507019.1:p.Gly321Asp
ENST00000682508.1:n.991G>A
ENST00000684218.1:c.*220G>A	ENSP00000507804.1:n.*220G>A
ENST00000684407.1:c.839G>A	ENSP00000507775.1:p.Gly280Asp
ENST00000684458.1:c.962G>A	ENSP00000508260.1:p.Gly321Asp
ENST00000391945.10:c.962G>A MANE Select	ENSP00000375809.4:p.Gly321Asp
ENST00000587376.6:c.85G>A
ENST00000646507.1:n.1059G>A
ENST00000391941.6:c.890G>A	ENSP00000375805.2:p.Gly297Asp
ENST00000391944.7:c.728G>A	ENSP00000375808.3:p.Gly243Asp
ENST00000391945.8:c.962G>A	ENSP00000375809.3:p.Gly321Asp
ENST00000485403.6:c.890G>A	ENSP00000431229.2:p.Gly297Asp
ENST00000587376.5:c.85G>A
NM_000400.3:c.962G>A , LRG_461t1:c.962G>A	NP_000391.1:p.Gly321Asp
NM_001130867.1:c.890G>A	NP_001124339.1:p.Gly297Asp
XM_011526611.1:c.884G>A	XP_011524913.1:p.Gly295Asp
XR_935763.1:n.1009G>A
XM_011526611.2:c.884G>A	XP_011524913.1:p.Gly295Asp
XM_017026467.1:c.839G>A	XP_016881956.1:p.Gly280Asp
XR_001753633.2:n.1009G>A
XR_001753634.2:n.1009G>A
NM_000400.4:c.962G>A MANE Select	NP_000391.1:p.Gly321Asp
NM_001130867.2:c.890G>A	NP_001124339.1:p.Gly297Asp