Canonical Allele Identifier: CA456488146
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1565999
ClinVar RCV Id: RCV002205611
dbSNP Id: rs1791843396
gnomAD v4: 7-94408224-C-G
MyVariant Identifiers: chr7:g.94037536C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408224C>G , CM000669.2:g.94408224C>G GRCh38
NC_000007.13:g.94037536C>G , CM000669.1:g.94037536C>G GRCh37
NC_000007.12:g.93875472C>G NCBI36
NG_007405.1:g.18664C>G , LRG_2:g.18664C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.681C>G MANE Select ENSP00000297268.6:p.Ala227=
ENST00000297268.10:c.681C>G ENSP00000297268.6:p.Ala227=
ENST00000620463.1:c.675C>G ENSP00000477719.1:p.Ala225=
NM_000089.3:c.681C>G , LRG_2t1:c.681C>G NP_000080.2:p.Ala227=
NM_000089.4:c.681C>G MANE Select NP_000080.2:p.Ala227=
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