Canonical Allele Identifier: CA456487065
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94033903T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404591T>A , CM000669.2:g.94404591T>A GRCh38
NC_000007.13:g.94033903T>A , CM000669.1:g.94033903T>A GRCh37
NC_000007.12:g.93871839T>A NCBI36
NG_007405.1:g.15031T>A , LRG_2:g.15031T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.315T>A MANE Select ENSP00000297268.6:p.Ala105=
ENST00000297268.10:c.315T>A ENSP00000297268.6:p.Ala105=
ENST00000620463.1:c.309T>A ENSP00000477719.1:p.Ala103=
NM_000089.3:c.315T>A , LRG_2t1:c.315T>A NP_000080.2:p.Ala105=
NM_000089.4:c.315T>A MANE Select NP_000080.2:p.Ala105=
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