Canonical Allele Identifier: CA368220540
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425660
ClinVar RCV Id: RCV000490663 RCV002527011
dbSNP Id: rs1114167417
MyVariant Identifiers: chr7:g.94038634G>C (hg19) chr7:g.94409322G>C (hg38)
PubMed: PMID:25944380
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409322G>C , CM000669.2:g.94409322G>C GRCh38
NC_000007.13:g.94038634G>C , CM000669.1:g.94038634G>C GRCh37
NC_000007.12:g.93876570G>C NCBI36
NG_007405.1:g.19762G>C , LRG_2:g.19762G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.793G>C MANE Select ENSP00000297268.6:p.Gly265Arg
ENST00000297268.10:c.793G>C ENSP00000297268.6:p.Gly265Arg
ENST00000620463.1:c.787G>C ENSP00000477719.1:p.Gly263Arg
NM_000089.3:c.793G>C , LRG_2t1:c.793G>C NP_000080.2:p.Gly265Arg
NM_000089.4:c.793G>C MANE Select NP_000080.2:p.Gly265Arg
Search 100 bp 5'
Search 100 bp 3'