Canonical Allele Identifier: CA162914022
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1531122
ClinVar RCV Id: RCV002092292
dbSNP Id: rs918955690
gnomAD v4: 7-94404561-A-G
MyVariant Identifiers: chr7:g.94033873A>G (hg19) chr7:g.94404561A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404561A>G , CM000669.2:g.94404561A>G GRCh38
NC_000007.13:g.94033873A>G , CM000669.1:g.94033873A>G GRCh37
NC_000007.12:g.93871809A>G NCBI36
NG_007405.1:g.15001A>G , LRG_2:g.15001A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.285A>G MANE Select ENSP00000297268.6:p.Leu95=
ENST00000297268.10:c.285A>G ENSP00000297268.6:p.Leu95=
ENST00000620463.1:c.279A>G ENSP00000477719.1:p.Leu93=
NM_000089.3:c.285A>G , LRG_2t1:c.285A>G NP_000080.2:p.Leu95=
NM_000089.4:c.285A>G MANE Select NP_000080.2:p.Leu95=
Search 100 bp 5'
Search 100 bp 3'