Canonical Allele Identifier: CA576321556
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1190519722
gnomAD v2: 7-94034088-G-GT
gnomAD v4: 7-94404776-G-GT
MyVariant Identifiers: chr7:g.94034088_94034089insT (hg19) chr7:g.94404776_94404777insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404783dup , CM000669.2:g.94404783dup GRCh38
NC_000007.13:g.94034095dup , CM000669.1:g.94034095dup GRCh37
NC_000007.12:g.93872031dup NCBI36
NG_007405.1:g.15223dup , LRG_2:g.15223dup

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+37dup MANE Select ENSP00000297268.6:n.378+37dup
ENST00000297268.10:c.378+37dup ENSP00000297268.6:n.378+37dup
ENST00000620463.1:c.372+37dup ENSP00000477719.1:n.372+37dup
NM_000089.3:c.378+37dup , LRG_2t1:c.378+37dup NP_000080.2:n.378+37dup
NM_000089.4:c.378+37dup MANE Select NP_000080.2:n.378+37dup
Search 100 bp 5'
Search 100 bp 3'