Canonical Allele Identifier: CA162925217
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94412657G>A
GRCh37 chr7:g.94041969G>A
Revel Score:
ENST00000297268 (MANE Select) 0.996
ENST00000545487 0.996
ClinVar RCV:
RCV002233928
ClinVar Variation:
526885
dbSNP:
72658121
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94412657G>A , CM000669.2:g.94412657G>A GRCh38
NC_000007.13:g.94041969G>A , CM000669.1:g.94041969G>A GRCh37
NC_000007.12:g.93879905G>A NCBI36
NG_007405.1:g.23097G>A , LRG_2:g.23097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1478G>A MANE Select ENSP00000297268.6:p.Gly493Glu
ENST00000297268.10:c.1478G>A ENSP00000297268.6:p.Gly493Glu
ENST00000620463.1:c.1472G>A ENSP00000477719.1:p.Gly491Glu
NM_000089.3:c.1478G>A , LRG_2t1:c.1478G>A NP_000080.2:p.Gly493Glu
NM_000089.4:c.1478G>A MANE Select NP_000080.2:p.Gly493Glu
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