Canonical Allele Identifier: CA1726792240
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404792T= , CM000669.2:g.94404792T= GRCh38
NC_000007.13:g.94034104T= , CM000669.1:g.94034104T= GRCh37
NC_000007.12:g.93872040T= NCBI36
NG_007405.1:g.15232T= , LRG_2:g.15232T=

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.379-47T= MANE Select ENSP00000297268.6:n.379-47T=
ENST00000297268.10:c.379-47T= ENSP00000297268.6:n.379-47T=
ENST00000620463.1:c.373-47T= ENSP00000477719.1:n.373-47T=
NM_000089.3:c.379-47T= , LRG_2t1:c.379-47T= NP_000080.2:n.379-47T=
NM_000089.4:c.379-47T= MANE Select NP_000080.2:n.379-47T=