Canonical Allele Identifier: CA162890057
Gene: COL1A2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs7792596
gnomAD v2: 7-94009634-T-C
gnomAD v3: 7-94380322-T-C
gnomAD v4: 7-94380322-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94380322T>C , CM000669.2:g.94380322T>C GRCh38
NC_000007.13:g.94009634T>C , CM000669.1:g.94009634T>C GRCh37
NC_000007.12:g.93847570T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927753.1:n.2325+11083A>G
XR_927754.1:n.1683A>G
XR_927755.1:n.2325+11083A>G
NR_147206.1:n.476A>G