Canonical Allele Identifier: CA1726792233
Gene: COL1A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404778T= , CM000669.2:g.94404778T= GRCh38
NC_000007.13:g.94034090T= , CM000669.1:g.94034090T= GRCh37
NC_000007.12:g.93872026T= NCBI36
NG_007405.1:g.15218T= , LRG_2:g.15218T=

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+32T= MANE Select ENSP00000297268.6:n.378+32T=
ENST00000297268.10:c.378+32T= ENSP00000297268.6:n.378+32T=
ENST00000620463.1:c.372+32T= ENSP00000477719.1:n.372+32T=
NM_000089.3:c.378+32T= , LRG_2t1:c.378+32T= NP_000080.2:n.378+32T=
NM_000089.4:c.378+32T= MANE Select NP_000080.2:n.378+32T=
Search 100 bp 5'
Search 100 bp 3'