Canonical Allele Identifier: CA2683768125
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1345268337
gnomAD v4: 7-94409197-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409197G>T , CM000669.2:g.94409197G>T GRCh38
NC_000007.13:g.94038509G>T , CM000669.1:g.94038509G>T GRCh37
NC_000007.12:g.93876445G>T NCBI36
NG_007405.1:g.19637G>T , LRG_2:g.19637G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.793-125G>T MANE Select ENSP00000297268.6:n.793-125G>T
ENST00000297268.10:c.793-125G>T ENSP00000297268.6:n.793-125G>T
ENST00000620463.1:c.787-125G>T ENSP00000477719.1:n.787-125G>T
NM_000089.3:c.793-125G>T , LRG_2t1:c.793-125G>T NP_000080.2:n.793-125G>T
NM_000089.4:c.793-125G>T MANE Select NP_000080.2:n.793-125G>T
Search 100 bp 5'
Search 100 bp 3'