Canonical Allele Identifier: CA1726792140
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404564G= , CM000669.2:g.94404564G= GRCh38
NC_000007.13:g.94033876G= , CM000669.1:g.94033876G= GRCh37
NC_000007.12:g.93871812G= NCBI36
NG_007405.1:g.15004G= , LRG_2:g.15004G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.288G= MANE Select ENSP00000297268.6:p.Met96=
ENST00000297268.10:c.288G= ENSP00000297268.6:p.Met96=
ENST00000620463.1:c.282G= ENSP00000477719.1:p.Met94=
NM_000089.3:c.288G= , LRG_2t1:c.288G= NP_000080.2:p.Met96=
NM_000089.4:c.288G= MANE Select NP_000080.2:p.Met96=