Canonical Allele Identifier: CA576324465
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1562907425
gnomAD v2: 7-94055702-G-GT
gnomAD v4: 7-94426390-G-GT
MyVariant Identifiers: chr7:g.94055702_94055703insT (hg19) chr7:g.94426390_94426391insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426391dup , CM000669.2:g.94426391dup GRCh38
NC_000007.13:g.94055703dup , CM000669.1:g.94055703dup GRCh37
NC_000007.12:g.93893639dup NCBI36
NG_007405.1:g.36831dup , LRG_2:g.36831dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-32dup MANE Select ENSP00000297268.6:n.2998-32dup
ENST00000297268.10:c.2998-32dup ENSP00000297268.6:n.2998-32dup
ENST00000478215.1:n.557-32dup
ENST00000481570.5:n.2971-32dup
ENST00000620463.1:c.2992-32dup ENSP00000477719.1:n.2992-32dup
NM_000089.3:c.2998-32dup , LRG_2t1:c.2998-32dup NP_000080.2:n.2998-32dup
NM_000089.4:c.2998-32dup MANE Select NP_000080.2:n.2998-32dup
Search 100 bp 5'
Search 100 bp 3'