Canonical Allele Identifier: CA456489636
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs563505012
gnomAD v2: 7-94052373-A-T
gnomAD v3: 7-94423061-A-T
gnomAD v4: 7-94423061-A-T
MyVariant Identifiers: chr7:g.94052373A>T (hg19) chr7:g.94423061A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423061A>T , CM000669.2:g.94423061A>T GRCh38
NC_000007.13:g.94052373A>T , CM000669.1:g.94052373A>T GRCh37
NC_000007.12:g.93890309A>T NCBI36
NG_007405.1:g.33501A>T , LRG_2:g.33501A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2508A>T MANE Select ENSP00000297268.6:p.Ala836=
ENST00000297268.10:c.2508A>T ENSP00000297268.6:p.Ala836=
ENST00000481570.5:n.591A>T
ENST00000497316.5:n.905A>T
ENST00000620463.1:c.2502A>T ENSP00000477719.1:p.Ala834=
NM_000089.3:c.2508A>T , LRG_2t1:c.2508A>T NP_000080.2:p.Ala836=
NM_000089.4:c.2508A>T MANE Select NP_000080.2:p.Ala836=
Search 100 bp 5'
Search 100 bp 3'