Canonical Allele Identifier: CA1726790948
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401692C= , CM000669.2:g.94401692C= GRCh38
NC_000007.13:g.94031004C= , CM000669.1:g.94031004C= GRCh37
NC_000007.12:g.93868940C= NCBI36
NG_007405.1:g.12132C= , LRG_2:g.12132C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+72C= MANE Select ENSP00000297268.6:n.279+72C=
ENST00000297268.10:c.279+72C= ENSP00000297268.6:n.279+72C=
ENST00000620463.1:c.273+72C= ENSP00000477719.1:n.273+72C=
NM_000089.3:c.279+72C= , LRG_2t1:c.279+72C= NP_000080.2:n.279+72C=
NM_000089.4:c.279+72C= MANE Select NP_000080.2:n.279+72C=