Canonical Allele Identifier: CA4346961
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 456803
ClinVar RCV Id: RCV000757107 RCV003338649 RCV002231006
dbSNP Id: rs550867796
ExAC: 7:94040249 G / A
gnomAD v2: 7-94040249-G-A
gnomAD v3: 7-94410937-G-A
gnomAD v4: 7-94410937-G-A
COSMIC: COSM198533
MyVariant Identifiers: chr7:g.94040249G>A (hg19) chr7:g.94410937G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94410937G>A , CM000669.2:g.94410937G>A GRCh38
NC_000007.13:g.94040249G>A , CM000669.1:g.94040249G>A GRCh37
NC_000007.12:g.93878185G>A NCBI36
NG_007405.1:g.21377G>A , LRG_2:g.21377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1246G>A MANE Select ENSP00000297268.6:p.Val416Ile
ENST00000297268.10:c.1246G>A ENSP00000297268.6:p.Val416Ile
ENST00000620463.1:c.1240G>A ENSP00000477719.1:p.Val414Ile
NM_000089.3:c.1246G>A , LRG_2t1:c.1246G>A NP_000080.2:p.Val416Ile
NM_000089.4:c.1246G>A MANE Select NP_000080.2:p.Val416Ile
Search 100 bp 5'
Search 100 bp 3'