Canonical Allele Identifier: CA348391623

Gene: ERCC3

Linked Data

• gnomAD v4: 2-127292686-T-C
• MyVariant Identifiers: chr2:g.128050262T>C (hg19) ; chr2:g.127292686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292686T>C , CM000664.2:g.127292686T>C	GRCh38
NC_000002.11:g.128050262T>C , CM000664.1:g.128050262T>C	GRCh37
NC_000002.10:g.127766732T>C	NCBI36
NG_007454.1:g.6491A>G , LRG_462:g.6491A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.395A>G MANE Select	ENSP00000285398.2:p.Gln132Arg
ENST00000642308.1:c.395A>G	ENSP00000496684.1:p.Gln132Arg
ENST00000644317.1:c.253A>G	ENSP00000494012.1:p.Lys85Glu
ENST00000645233.1:c.395A>G	ENSP00000494116.1:p.Gln132Arg
ENST00000645467.1:c.395A>G	ENSP00000494889.1:p.Gln132Arg
ENST00000645736.1:c.251A>G	ENSP00000494545.1:p.Gln84Arg
ENST00000646654.1:c.395A>G	ENSP00000494526.1:p.Gln132Arg
ENST00000647169.1:c.395A>G	ENSP00000495619.1:p.Gln132Arg
ENST00000285398.6:c.395A>G	ENSP00000285398.2:p.Gln132Arg
ENST00000426778.5:c.*376A>G	ENSP00000415335.1:n.*376A>G
ENST00000445889.5:c.*438A>G	ENSP00000390888.1:n.*438A>G
ENST00000462306.5:n.309A>G
ENST00000490062.1:n.325A>G
ENST00000494464.5:n.279A>G
NM_000122.1:c.395A>G , LRG_462t1:c.395A>G	NP_000113.1:p.Gln132Arg
NM_001303416.1:c.203A>G	NP_001290345.1:p.Gln68Arg
NM_001303418.1:c.203A>G	NP_001290347.1:p.Gln68Arg
XM_011510794.1:c.395A>G	XP_011509096.1:p.Gln132Arg
XM_011510795.1:c.-62A>G	XP_011509097.1:n.-62A>G
XM_011510794.2:c.395A>G	XP_011509096.1:p.Gln132Arg
XM_017003583.1:c.-62A>G	XP_016859072.1:n.-62A>G
NM_000122.2:c.395A>G MANE Select	NP_000113.1:p.Gln132Arg
NM_001303416.2:c.203A>G	NP_001290345.1:p.Gln68Arg
NM_001303418.2:c.203A>G	NP_001290347.1:p.Gln68Arg