Canonical Allele Identifier: CA348391489

Gene: ERCC3

Linked Data

• dbSNP Id: rs1390119570
• gnomAD v2: 2-128050202-A-G
• gnomAD v4: 2-127292626-A-G
• MyVariant Identifiers: chr2:g.128050202A>G (hg19) ; chr2:g.127292626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292626A>G , CM000664.2:g.127292626A>G	GRCh38
NC_000002.11:g.128050202A>G , CM000664.1:g.128050202A>G	GRCh37
NC_000002.10:g.127766672A>G	NCBI36
NG_007454.1:g.6551T>C , LRG_462:g.6551T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.455T>C MANE Select	ENSP00000285398.2:p.Ile152Thr
ENST00000642308.1:c.455T>C	ENSP00000496684.1:p.Ile152Thr
ENST00000644317.1:c.313T>C	ENSP00000494012.1:p.Leu105=
ENST00000645233.1:c.455T>C	ENSP00000494116.1:p.Ile152Thr
ENST00000645467.1:c.455T>C	ENSP00000494889.1:p.Ile152Thr
ENST00000645736.1:c.311T>C	ENSP00000494545.1:p.Ile104Thr
ENST00000646654.1:c.455T>C	ENSP00000494526.1:p.Ile152Thr
ENST00000647169.1:c.455T>C	ENSP00000495619.1:p.Ile152Thr
ENST00000647496.1:c.28T>C
ENST00000285398.6:c.455T>C	ENSP00000285398.2:p.Ile152Thr
ENST00000426778.5:c.*436T>C	ENSP00000415335.1:n.*436T>C
ENST00000445889.5:c.*498T>C	ENSP00000390888.1:n.*498T>C
ENST00000462306.5:n.369T>C
ENST00000490062.1:n.385T>C
ENST00000494464.5:n.339T>C
NM_000122.1:c.455T>C , LRG_462t1:c.455T>C	NP_000113.1:p.Ile152Thr
NM_001303416.1:c.263T>C	NP_001290345.1:p.Ile88Thr
NM_001303418.1:c.263T>C	NP_001290347.1:p.Ile88Thr
XM_011510794.1:c.455T>C	XP_011509096.1:p.Ile152Thr
XM_011510795.1:c.-2T>C	XP_011509097.1:n.-2T>C
XM_011510794.2:c.455T>C	XP_011509096.1:p.Ile152Thr
XM_017003583.1:c.-2T>C	XP_016859072.1:n.-2T>C
NM_000122.2:c.455T>C MANE Select	NP_000113.1:p.Ile152Thr
NM_001303416.2:c.263T>C	NP_001290345.1:p.Ile88Thr
NM_001303418.2:c.263T>C	NP_001290347.1:p.Ile88Thr