Canonical Allele Identifier: CA162936464
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94421009G>A
GRCh37 chr7:g.94050321G>A
Revel Score:
ENST00000297268 (MANE Select) 0.927
ENST00000545487 0.927
ClinVar RCV:
RCV000517302
RCV003766918
ClinVar Variation:
447151
dbSNP:
72658182
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94421009G>A , CM000669.2:g.94421009G>A GRCh38
NC_000007.13:g.94050321G>A , CM000669.1:g.94050321G>A GRCh37
NC_000007.12:g.93888257G>A NCBI36
NG_007405.1:g.31449G>A , LRG_2:g.31449G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2296G>A MANE Select ENSP00000297268.6:p.Gly766Ser
ENST00000297268.10:c.2296G>A ENSP00000297268.6:p.Gly766Ser
ENST00000461525.5:n.385G>A
ENST00000467931.1:n.676G>A
ENST00000473573.5:n.633G>A
ENST00000497316.5:n.693G>A
ENST00000620463.1:c.2290G>A ENSP00000477719.1:p.Gly764Ser
NM_000089.3:c.2296G>A , LRG_2t1:c.2296G>A NP_000080.2:p.Gly766Ser
NM_000089.4:c.2296G>A MANE Select NP_000080.2:p.Gly766Ser
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