Canonical Allele Identifier: CA843997232
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1230740332
gnomAD v3: 7-94401822-T-C
gnomAD v4: 7-94401822-T-C
MyVariant Identifiers: chr7:g.94031134T>C (hg19) chr7:g.94401822T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401822T>C , CM000669.2:g.94401822T>C GRCh38
NC_000007.13:g.94031134T>C , CM000669.1:g.94031134T>C GRCh37
NC_000007.12:g.93869070T>C NCBI36
NG_007405.1:g.12262T>C , LRG_2:g.12262T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+202T>C MANE Select ENSP00000297268.6:n.279+202T>C
ENST00000297268.10:c.279+202T>C ENSP00000297268.6:n.279+202T>C
ENST00000620463.1:c.273+202T>C ENSP00000477719.1:n.273+202T>C
NM_000089.3:c.279+202T>C , LRG_2t1:c.279+202T>C NP_000080.2:n.279+202T>C
NM_000089.4:c.279+202T>C MANE Select NP_000080.2:n.279+202T>C
Search 100 bp 5'
Search 100 bp 3'