Canonical Allele Identifier: CA1726790881
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401550T= , CM000669.2:g.94401550T= GRCh38
NC_000007.13:g.94030862T= , CM000669.1:g.94030862T= GRCh37
NC_000007.12:g.93868798T= NCBI36
NG_007405.1:g.11990T= , LRG_2:g.11990T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-17T= MANE Select ENSP00000297268.6:n.226-17T=
ENST00000297268.10:c.226-17T= ENSP00000297268.6:n.226-17T=
ENST00000620463.1:c.220-17T= ENSP00000477719.1:n.220-17T=
NM_000089.3:c.226-17T= , LRG_2t1:c.226-17T= NP_000080.2:n.226-17T=
NM_000089.4:c.226-17T= MANE Select NP_000080.2:n.226-17T=