Canonical Allele Identifier: CA1726777302
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423291A= , CM000669.2:g.94423291A= GRCh38
NC_000007.13:g.94052603A= , CM000669.1:g.94052603A= GRCh37
NC_000007.12:g.93890539A= NCBI36
NG_007405.1:g.33731A= , LRG_2:g.33731A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+173A= MANE Select ENSP00000297268.6:n.2565+173A=
ENST00000297268.10:c.2565+173A= ENSP00000297268.6:n.2565+173A=
ENST00000481570.5:n.821A=
ENST00000620463.1:c.2559+173A= ENSP00000477719.1:n.2559+173A=
NM_000089.3:c.2565+173A= , LRG_2t1:c.2565+173A= NP_000080.2:n.2565+173A=
NM_000089.4:c.2565+173A= MANE Select NP_000080.2:n.2565+173A=