Canonical Allele Identifier: CA1726776439
Community Standard Title: NM_000089.4(COL1A2):c.2414G= (p.Gly805=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422967G= , CM000669.2:g.94422967G= GRCh38
NC_000007.13:g.94052279G= , CM000669.1:g.94052279G= GRCh37
NC_000007.12:g.93890215G= NCBI36
NG_007405.1:g.33407G= , LRG_2:g.33407G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.2414G= MANE Select NP_000080.2:p.Gly805=
ENST00000297268.11:c.2414G= MANE Select ENSP00000297268.6:p.Gly805=
NM_000089.3:c.2414G= , LRG_2t1:c.2414G= NP_000080.2:p.Gly805=
ENST00000297268.10:c.2414G= ENSP00000297268.6:p.Gly805=
ENST00000481570.5:n.497G=
ENST00000497316.5:n.811G=
ENST00000620463.1:c.2408G= ENSP00000477719.1:p.Gly803=