Canonical Allele Identifier: CA260348
Community Standard Title: NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94418518G>A , CM000669.2:g.94418518G>A GRCh38
NC_000007.13:g.94047830G>A , CM000669.1:g.94047830G>A GRCh37
NC_000007.12:g.93885766G>A NCBI36
NG_007405.1:g.28958G>A , LRG_2:g.28958G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1991G>A MANE Select NP_000080.2:p.Gly664Asp
ENST00000297268.11:c.1991G>A MANE Select ENSP00000297268.6:p.Gly664Asp
NM_000089.3:c.1991G>A , LRG_2t1:c.1991G>A NP_000080.2:p.Gly664Asp
ENST00000297268.10:c.1991G>A ENSP00000297268.6:p.Gly664Asp
ENST00000461525.5:n.80G>A
ENST00000473573.5:n.328G>A
ENST00000497316.5:n.388G>A
ENST00000620463.1:c.1985G>A ENSP00000477719.1:p.Gly662Asp
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