Canonical Allele Identifier: CA1726778721
Community Standard Title: NM_000089.4(COL1A2):c.2593G= (p.Gly865=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94424363G= , CM000669.2:g.94424363G= GRCh38
NC_000007.13:g.94053675G= , CM000669.1:g.94053675G= GRCh37
NC_000007.12:g.93891611G= NCBI36
NG_007405.1:g.34803G= , LRG_2:g.34803G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.2593G= MANE Select NP_000080.2:p.Gly865=
ENST00000297268.11:c.2593G= MANE Select ENSP00000297268.6:p.Gly865=
NM_000089.3:c.2593G= , LRG_2t1:c.2593G= NP_000080.2:p.Gly865=
ENST00000297268.10:c.2593G= ENSP00000297268.6:p.Gly865=
ENST00000469732.1:n.376G=
ENST00000481570.5:n.1893G=
ENST00000620463.1:c.2587G= ENSP00000477719.1:p.Gly863=