Canonical Allele Identifier: CA348391690

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 2829712
• ClinVar RCV Id: RCV003686406
• MyVariant Identifiers: chr2:g.128050294G>C (hg19) ; chr2:g.127292718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292718G>C , CM000664.2:g.127292718G>C	GRCh38
NC_000002.11:g.128050294G>C , CM000664.1:g.128050294G>C	GRCh37
NC_000002.10:g.127766764G>C	NCBI36
NG_007454.1:g.6459C>G , LRG_462:g.6459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.363C>G MANE Select	ENSP00000285398.2:p.Tyr121Ter
ENST00000642308.1:c.363C>G	ENSP00000496684.1:p.Tyr121Ter
ENST00000644317.1:c.235-14C>G	ENSP00000494012.1:n.235-14C>G
ENST00000645233.1:c.363C>G	ENSP00000494116.1:p.Tyr121Ter
ENST00000645467.1:c.363C>G	ENSP00000494889.1:p.Tyr121Ter
ENST00000645736.1:c.219C>G	ENSP00000494545.1:p.Tyr73Ter
ENST00000646654.1:c.363C>G	ENSP00000494526.1:p.Tyr121Ter
ENST00000647169.1:c.363C>G	ENSP00000495619.1:p.Tyr121Ter
ENST00000285398.6:c.363C>G	ENSP00000285398.2:p.Tyr121Ter
ENST00000426778.5:c.*344C>G	ENSP00000415335.1:n.*344C>G
ENST00000445889.5:c.*406C>G	ENSP00000390888.1:n.*406C>G
ENST00000462306.5:n.291-14C>G
ENST00000490062.1:n.307-14C>G
ENST00000494464.5:n.261-14C>G
NM_000122.1:c.363C>G , LRG_462t1:c.363C>G	NP_000113.1:p.Tyr121Ter
NM_001303416.1:c.171C>G	NP_001290345.1:p.Tyr57Ter
NM_001303418.1:c.171C>G	NP_001290347.1:p.Tyr57Ter
XM_011510794.1:c.363C>G	XP_011509096.1:p.Tyr121Ter
XM_011510795.1:c.-80-14C>G	XP_011509097.1:n.-80-14C>G
XM_011510794.2:c.363C>G	XP_011509096.1:p.Tyr121Ter
XM_017003583.1:c.-80-14C>G	XP_016859072.1:n.-80-14C>G
NM_000122.2:c.363C>G MANE Select	NP_000113.1:p.Tyr121Ter
NM_001303416.2:c.171C>G	NP_001290345.1:p.Tyr57Ter
NM_001303418.2:c.171C>G	NP_001290347.1:p.Tyr57Ter