Canonical Allele Identifier: CA1726789498
Community Standard Title: NM_000089.4(COL1A2):c.87T= (p.Thr29=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94398387T= , CM000669.2:g.94398387T= GRCh38
NC_000007.13:g.94027699T= , CM000669.1:g.94027699T= GRCh37
NC_000007.12:g.93865635T= NCBI36
NG_007405.1:g.8827T= , LRG_2:g.8827T=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.87T= MANE Select NP_000080.2:p.Thr29=
ENST00000297268.11:c.87T= MANE Select ENSP00000297268.6:p.Thr29=
NM_000089.3:c.87T= , LRG_2t1:c.87T= NP_000080.2:p.Thr29=
ENST00000297268.10:c.87T= ENSP00000297268.6:p.Thr29=
ENST00000620463.1:c.81T= ENSP00000477719.1:p.Thr27=