Canonical Allele Identifier: CA10654776
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369727
ClinVar RCV Id: RCV000408644
dbSNP Id: rs1057516053
MyVariant Identifiers: chr7:g.94042441G>A (hg19) chr7:g.94413129G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94413129G>A , CM000669.2:g.94413129G>A GRCh38
NC_000007.13:g.94042441G>A , CM000669.1:g.94042441G>A GRCh37
NC_000007.12:g.93880377G>A NCBI36
NG_007405.1:g.23569G>A , LRG_2:g.23569G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1550G>A MANE Select ENSP00000297268.6:p.Gly517Asp
ENST00000297268.10:c.1550G>A ENSP00000297268.6:p.Gly517Asp
ENST00000620463.1:c.1544G>A ENSP00000477719.1:p.Gly515Asp
NM_000089.3:c.1550G>A , LRG_2t1:c.1550G>A NP_000080.2:p.Gly517Asp
NM_000089.4:c.1550G>A MANE Select NP_000080.2:p.Gly517Asp
Search 100 bp 5'
Search 100 bp 3'