Canonical Allele Identifier: CA4347454
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs756847406
ExAC: 7:94052331 T / G
gnomAD v2: 7-94052331-T-G
gnomAD v4: 7-94423019-T-G
MyVariant Identifiers: chr7:g.94052331T>G (hg19) chr7:g.94423019T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423019T>G , CM000669.2:g.94423019T>G GRCh38
NC_000007.13:g.94052331T>G , CM000669.1:g.94052331T>G GRCh37
NC_000007.12:g.93890267T>G NCBI36
NG_007405.1:g.33459T>G , LRG_2:g.33459T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2466T>G MANE Select ENSP00000297268.6:p.Arg822=
ENST00000297268.10:c.2466T>G ENSP00000297268.6:p.Arg822=
ENST00000481570.5:n.549T>G
ENST00000497316.5:n.863T>G
ENST00000620463.1:c.2460T>G ENSP00000477719.1:p.Arg820=
NM_000089.3:c.2466T>G , LRG_2t1:c.2466T>G NP_000080.2:p.Arg822=
NM_000089.4:c.2466T>G MANE Select NP_000080.2:p.Arg822=
Search 100 bp 5'
Search 100 bp 3'