Canonical Allele Identifier: CA1726777220
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423223C= , CM000669.2:g.94423223C= GRCh38
NC_000007.13:g.94052535C= , CM000669.1:g.94052535C= GRCh37
NC_000007.12:g.93890471C= NCBI36
NG_007405.1:g.33663C= , LRG_2:g.33663C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+105C= MANE Select ENSP00000297268.6:n.2565+105C=
ENST00000297268.10:c.2565+105C= ENSP00000297268.6:n.2565+105C=
ENST00000481570.5:n.753C=
ENST00000620463.1:c.2559+105C= ENSP00000477719.1:n.2559+105C=
NM_000089.3:c.2565+105C= , LRG_2t1:c.2565+105C= NP_000080.2:n.2565+105C=
NM_000089.4:c.2565+105C= MANE Select NP_000080.2:n.2565+105C=