Canonical Allele Identifier: CA368222912
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94047115C>A (hg19) chr7:g.94417803C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417803C>A , CM000669.2:g.94417803C>A GRCh38
NC_000007.13:g.94047115C>A , CM000669.1:g.94047115C>A GRCh37
NC_000007.12:g.93885051C>A NCBI36
NG_007405.1:g.28243C>A , LRG_2:g.28243C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1943C>A MANE Select ENSP00000297268.6:p.Ala648Asp
ENST00000297268.10:c.1943C>A ENSP00000297268.6:p.Ala648Asp
ENST00000461525.5:n.32C>A
ENST00000473573.5:n.280C>A
ENST00000497316.5:n.340C>A
ENST00000620463.1:c.1937C>A ENSP00000477719.1:p.Ala646Asp
NM_000089.3:c.1943C>A , LRG_2t1:c.1943C>A NP_000080.2:p.Ala648Asp
NM_000089.4:c.1943C>A MANE Select NP_000080.2:p.Ala648Asp
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