Canonical Allele Identifier: CA368223871
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 585499
ClinVar RCV Id: RCV000710779
dbSNP Id: rs1562906013
gnomAD v4: 7-94422958-G-C
MyVariant Identifiers: chr7:g.94052270G>C (hg19) chr7:g.94422958G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422958G>C , CM000669.2:g.94422958G>C GRCh38
NC_000007.13:g.94052270G>C , CM000669.1:g.94052270G>C GRCh37
NC_000007.12:g.93890206G>C NCBI36
NG_007405.1:g.33398G>C , LRG_2:g.33398G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2405G>C MANE Select ENSP00000297268.6:p.Gly802Ala
ENST00000297268.10:c.2405G>C ENSP00000297268.6:p.Gly802Ala
ENST00000481570.5:n.488G>C
ENST00000497316.5:n.802G>C
ENST00000620463.1:c.2399G>C ENSP00000477719.1:p.Gly800Ala
NM_000089.3:c.2405G>C , LRG_2t1:c.2405G>C NP_000080.2:p.Gly802Ala
NM_000089.4:c.2405G>C MANE Select NP_000080.2:p.Gly802Ala
Search 100 bp 5'
Search 100 bp 3'