Canonical Allele Identifier: CA4346448
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 516294
ClinVar RCV Id: RCV001704771 RCV002066673
dbSNP Id: rs144776919
ExAC: 7:94027043 C / CT
gnomAD v2: 7-94027043-C-CT
gnomAD v3: 7-94397731-C-CT
gnomAD v4: 7-94397731-C-CT
COSMIC: COSN229935
MyVariant Identifiers: chr7:g.94027045_94027046insT (hg19) chr7:g.94027044_94027045insT (hg19) chr7:g.94027043_94027044insT (hg19) chr7:g.94397733_94397734insT (hg38) chr7:g.94397732_94397733insT (hg38) chr7:g.94397731_94397732insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94397741dup , CM000669.2:g.94397741dup GRCh38
NC_000007.13:g.94027053dup , CM000669.1:g.94027053dup GRCh37
NC_000007.12:g.93864989dup NCBI36
NG_007405.1:g.8181dup , LRG_2:g.8181dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.71-7dup MANE Select ENSP00000297268.6:n.71-7dup
ENST00000297268.10:c.71-7dup ENSP00000297268.6:n.71-7dup
ENST00000620463.1:c.71-633dup ENSP00000477719.1:n.71-633dup
NM_000089.3:c.71-7dup , LRG_2t1:c.71-7dup NP_000080.2:n.71-7dup
NM_000089.4:c.71-7dup MANE Select NP_000080.2:n.71-7dup
Search 100 bp 5'
Search 100 bp 3'