Canonical Allele Identifier: CA4346626
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs773096083
ExAC: 7:94033974 C / CT
gnomAD v3: 7-94404662-C-CT
gnomAD v4: 7-94404662-C-CT
MyVariant Identifiers: chr7:g.94033974_94033975insT (hg19) chr7:g.94404662_94404663insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404664dup , CM000669.2:g.94404664dup GRCh38
NC_000007.13:g.94033976dup , CM000669.1:g.94033976dup GRCh37
NC_000007.12:g.93871912dup NCBI36
NG_007405.1:g.15104dup , LRG_2:g.15104dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.325-29dup MANE Select ENSP00000297268.6:n.325-29dup
ENST00000297268.10:c.325-29dup ENSP00000297268.6:n.325-29dup
ENST00000620463.1:c.319-29dup ENSP00000477719.1:n.319-29dup
NM_000089.3:c.325-29dup , LRG_2t1:c.325-29dup NP_000080.2:n.325-29dup
NM_000089.4:c.325-29dup MANE Select NP_000080.2:n.325-29dup
Search 100 bp 5'
Search 100 bp 3'