Canonical Allele Identifier: CA406373105

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3231724
• ClinVar RCV Id: RCV004518439
• MyVariant Identifiers: chr19:g.45867154G>C (hg19) ; chr19:g.45363896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363896G>C , CM000681.2:g.45363896G>C	GRCh38
NC_000019.9:g.45867154G>C , CM000681.1:g.45867154G>C	GRCh37
NC_000019.8:g.50558994G>C	NCBI36
NG_007067.2:g.11692C>G , LRG_461:g.11692C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.965C>G	ENSP00000375808.4:p.Ser322Cys
ENST00000682414.1:c.965C>G	ENSP00000507019.1:p.Ser322Cys
ENST00000682508.1:n.994C>G
ENST00000684218.1:c.*223C>G	ENSP00000507804.1:n.*223C>G
ENST00000684407.1:c.842C>G	ENSP00000507775.1:p.Ser281Cys
ENST00000684458.1:c.965C>G	ENSP00000508260.1:p.Ser322Cys
ENST00000391945.10:c.965C>G MANE Select	ENSP00000375809.4:p.Ser322Cys
ENST00000587376.6:c.88C>G
ENST00000646507.1:n.1062C>G
ENST00000391941.6:c.893C>G	ENSP00000375805.2:p.Ser298Cys
ENST00000391944.7:c.731C>G	ENSP00000375808.3:p.Ser244Cys
ENST00000391945.8:c.965C>G	ENSP00000375809.3:p.Ser322Cys
ENST00000485403.6:c.893C>G	ENSP00000431229.2:p.Ser298Cys
ENST00000587376.5:c.88C>G
NM_000400.3:c.965C>G , LRG_461t1:c.965C>G	NP_000391.1:p.Ser322Cys
NM_001130867.1:c.893C>G	NP_001124339.1:p.Ser298Cys
XM_011526611.1:c.887C>G	XP_011524913.1:p.Ser296Cys
XR_935763.1:n.1012C>G
XM_011526611.2:c.887C>G	XP_011524913.1:p.Ser296Cys
XM_017026467.1:c.842C>G	XP_016881956.1:p.Ser281Cys
XR_001753633.2:n.1012C>G
XR_001753634.2:n.1012C>G
NM_000400.4:c.965C>G MANE Select	NP_000391.1:p.Ser322Cys
NM_001130867.2:c.893C>G	NP_001124339.1:p.Ser298Cys