Canonical Allele Identifier: CA1726792139
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404563T= , CM000669.2:g.94404563T= GRCh38
NC_000007.13:g.94033875T= , CM000669.1:g.94033875T= GRCh37
NC_000007.12:g.93871811T= NCBI36
NG_007405.1:g.15003T= , LRG_2:g.15003T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.287T= MANE Select ENSP00000297268.6:p.Met96=
ENST00000297268.10:c.287T= ENSP00000297268.6:p.Met96=
ENST00000620463.1:c.281T= ENSP00000477719.1:p.Met94=
NM_000089.3:c.287T= , LRG_2t1:c.287T= NP_000080.2:p.Met96=
NM_000089.4:c.287T= MANE Select NP_000080.2:p.Met96=