Canonical Allele Identifier: CA1726776553
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422990G= , CM000669.2:g.94422990G= GRCh38
NC_000007.13:g.94052302G= , CM000669.1:g.94052302G= GRCh37
NC_000007.12:g.93890238G= NCBI36
NG_007405.1:g.33430G= , LRG_2:g.33430G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2437G= MANE Select ENSP00000297268.6:p.Ala813=
ENST00000297268.10:c.2437G= ENSP00000297268.6:p.Ala813=
ENST00000481570.5:n.520G=
ENST00000497316.5:n.834G=
ENST00000620463.1:c.2431G= ENSP00000477719.1:p.Ala811=
NM_000089.3:c.2437G= , LRG_2t1:c.2437G= NP_000080.2:p.Ala813=
NM_000089.4:c.2437G= MANE Select NP_000080.2:p.Ala813=