Canonical Allele Identifier: CA368219414
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477061
ClinVar RCV Id: RCV001998278
dbSNP Id: rs2115874899
gnomAD v4: 7-94404554-A-G
MyVariant Identifiers: chr7:g.94033866A>G (hg19) chr7:g.94404554A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404554A>G , CM000669.2:g.94404554A>G GRCh38
NC_000007.13:g.94033866A>G , CM000669.1:g.94033866A>G GRCh37
NC_000007.12:g.93871802A>G NCBI36
NG_007405.1:g.14994A>G , LRG_2:g.14994A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-2A>G MANE Select ENSP00000297268.6:n.280-2A>G
ENST00000297268.10:c.280-2A>G ENSP00000297268.6:n.280-2A>G
ENST00000620463.1:c.274-2A>G ENSP00000477719.1:n.274-2A>G
NM_000089.3:c.280-2A>G , LRG_2t1:c.280-2A>G NP_000080.2:n.280-2A>G
NM_000089.4:c.280-2A>G MANE Select NP_000080.2:n.280-2A>G
Search 100 bp 5'
Search 100 bp 3'