Canonical Allele Identifier: CA368219459
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 526897
ClinVar RCV Id: RCV000845036 RCV002233933 RCV003238791 RCV003323646 RCV004527693
dbSNP Id: rs1410254723
gnomAD v2: 7-94033886-G-A
gnomAD v3: 7-94404574-G-A
gnomAD v4: 7-94404574-G-A
MyVariant Identifiers: chr7:g.94033886G>A (hg19) chr7:g.94404574G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404574G>A , CM000669.2:g.94404574G>A GRCh38
NC_000007.13:g.94033886G>A , CM000669.1:g.94033886G>A GRCh37
NC_000007.12:g.93871822G>A NCBI36
NG_007405.1:g.15014G>A , LRG_2:g.15014G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.298G>A MANE Select ENSP00000297268.6:p.Gly100Ser
ENST00000297268.10:c.298G>A ENSP00000297268.6:p.Gly100Ser
ENST00000620463.1:c.292G>A ENSP00000477719.1:p.Gly98Ser
NM_000089.3:c.298G>A , LRG_2t1:c.298G>A NP_000080.2:p.Gly100Ser
NM_000089.4:c.298G>A MANE Select NP_000080.2:p.Gly100Ser
Search 100 bp 5'
Search 100 bp 3'