Canonical Allele Identifier: CA1726792231
Gene: COL1A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404776G= , CM000669.2:g.94404776G= GRCh38
NC_000007.13:g.94034088G= , CM000669.1:g.94034088G= GRCh37
NC_000007.12:g.93872024G= NCBI36
NG_007405.1:g.15216G= , LRG_2:g.15216G=

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+30G= MANE Select ENSP00000297268.6:n.378+30G=
ENST00000297268.10:c.378+30G= ENSP00000297268.6:n.378+30G=
ENST00000620463.1:c.372+30G= ENSP00000477719.1:n.372+30G=
NM_000089.3:c.378+30G= , LRG_2t1:c.378+30G= NP_000080.2:n.378+30G=
NM_000089.4:c.378+30G= MANE Select NP_000080.2:n.378+30G=
Search 100 bp 5'
Search 100 bp 3'