Canonical Allele Identifier: CA4346615
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423747
ClinVar RCV Id: RCV000659367 RCV001508219 RCV002230957 RCV002438185 RCV002475951
dbSNP Id: rs763509640
ExAC: 7:94033874 A / G
gnomAD v2: 7-94033874-A-G
gnomAD v3: 7-94404562-A-G
gnomAD v4: 7-94404562-A-G
MyVariant Identifiers: chr7:g.94033874A>G (hg19) chr7:g.94404562A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404562A>G , CM000669.2:g.94404562A>G GRCh38
NC_000007.13:g.94033874A>G , CM000669.1:g.94033874A>G GRCh37
NC_000007.12:g.93871810A>G NCBI36
NG_007405.1:g.15002A>G , LRG_2:g.15002A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.286A>G MANE Select ENSP00000297268.6:p.Met96Val
ENST00000297268.10:c.286A>G ENSP00000297268.6:p.Met96Val
ENST00000620463.1:c.280A>G ENSP00000477719.1:p.Met94Val
NM_000089.3:c.286A>G , LRG_2t1:c.286A>G NP_000080.2:p.Met96Val
NM_000089.4:c.286A>G MANE Select NP_000080.2:p.Met96Val
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