Canonical Allele Identifier: CA4347464
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs774631731
ExAC: 7:94052370 T / A
gnomAD v2: 7-94052370-T-A
gnomAD v3: 7-94423058-T-A
gnomAD v4: 7-94423058-T-A
MyVariant Identifiers: chr7:g.94052370T>A (hg19) chr7:g.94423058T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423058T>A , CM000669.2:g.94423058T>A GRCh38
NC_000007.13:g.94052370T>A , CM000669.1:g.94052370T>A GRCh37
NC_000007.12:g.93890306T>A NCBI36
NG_007405.1:g.33498T>A , LRG_2:g.33498T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2505T>A MANE Select ENSP00000297268.6:p.Gly835=
ENST00000297268.10:c.2505T>A ENSP00000297268.6:p.Gly835=
ENST00000481570.5:n.588T>A
ENST00000497316.5:n.902T>A
ENST00000620463.1:c.2499T>A ENSP00000477719.1:p.Gly833=
NM_000089.3:c.2505T>A , LRG_2t1:c.2505T>A NP_000080.2:p.Gly835=
NM_000089.4:c.2505T>A MANE Select NP_000080.2:p.Gly835=
Search 100 bp 5'
Search 100 bp 3'