Canonical Allele Identifier: CA368220297
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94037535C>A (hg19) chr7:g.94408223C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408223C>A , CM000669.2:g.94408223C>A GRCh38
NC_000007.13:g.94037535C>A , CM000669.1:g.94037535C>A GRCh37
NC_000007.12:g.93875471C>A NCBI36
NG_007405.1:g.18663C>A , LRG_2:g.18663C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.680C>A MANE Select ENSP00000297268.6:p.Ala227Asp
ENST00000297268.10:c.680C>A ENSP00000297268.6:p.Ala227Asp
ENST00000620463.1:c.674C>A ENSP00000477719.1:p.Ala225Asp
NM_000089.3:c.680C>A , LRG_2t1:c.680C>A NP_000080.2:p.Ala227Asp
NM_000089.4:c.680C>A MANE Select NP_000080.2:p.Ala227Asp
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