Canonical Allele Identifier: CA576324459
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1562907412
gnomAD v2: 7-94055688-A-AT
gnomAD v4: 7-94426376-A-AT
MyVariant Identifiers: chr7:g.94055688_94055689insT (hg19) chr7:g.94426376_94426377insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426383dup , CM000669.2:g.94426383dup GRCh38
NC_000007.13:g.94055695dup , CM000669.1:g.94055695dup GRCh37
NC_000007.12:g.93893631dup NCBI36
NG_007405.1:g.36823dup , LRG_2:g.36823dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-40dup MANE Select ENSP00000297268.6:n.2998-40dup
ENST00000297268.10:c.2998-40dup ENSP00000297268.6:n.2998-40dup
ENST00000478215.1:n.557-40dup
ENST00000481570.5:n.2971-40dup
ENST00000620463.1:c.2992-40dup ENSP00000477719.1:n.2992-40dup
NM_000089.3:c.2998-40dup , LRG_2t1:c.2998-40dup NP_000080.2:n.2998-40dup
NM_000089.4:c.2998-40dup MANE Select NP_000080.2:n.2998-40dup
Search 100 bp 5'
Search 100 bp 3'