Canonical Allele Identifier: CA1726792130
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1584315903
gnomAD v4: 7-94404544-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404544C>T , CM000669.2:g.94404544C>T GRCh38
NC_000007.13:g.94033856C>T , CM000669.1:g.94033856C>T GRCh37
NC_000007.12:g.93871792C>T NCBI36
NG_007405.1:g.14984C>T , LRG_2:g.14984C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-12C>T MANE Select ENSP00000297268.6:n.280-12C>T
ENST00000297268.10:c.280-12C>T ENSP00000297268.6:n.280-12C>T
ENST00000620463.1:c.274-12C>T ENSP00000477719.1:n.274-12C>T
NM_000089.3:c.280-12C>T , LRG_2t1:c.280-12C>T NP_000080.2:n.280-12C>T
NM_000089.4:c.280-12C>T MANE Select NP_000080.2:n.280-12C>T
Search 100 bp 5'
Search 100 bp 3'