Canonical Allele Identifier: CA368219476
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2944354
ClinVar RCV Id: RCV003806104
dbSNP Id: rs1791755938
gnomAD v3: 7-94404584-G-A
gnomAD v4: 7-94404584-G-A
MyVariant Identifiers: chr7:g.94033896G>A (hg19) chr7:g.94404584G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404584G>A , CM000669.2:g.94404584G>A GRCh38
NC_000007.13:g.94033896G>A , CM000669.1:g.94033896G>A GRCh37
NC_000007.12:g.93871832G>A NCBI36
NG_007405.1:g.15024G>A , LRG_2:g.15024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.308G>A MANE Select ENSP00000297268.6:p.Gly103Asp
ENST00000297268.10:c.308G>A ENSP00000297268.6:p.Gly103Asp
ENST00000620463.1:c.302G>A ENSP00000477719.1:p.Gly101Asp
NM_000089.3:c.308G>A , LRG_2t1:c.308G>A NP_000080.2:p.Gly103Asp
NM_000089.4:c.308G>A MANE Select NP_000080.2:p.Gly103Asp
Search 100 bp 5'
Search 100 bp 3'