Canonical Allele Identifier: CA4346651
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs375839817
ExAC: 7:94034112 T / C
gnomAD v2: 7-94034112-T-C
gnomAD v3: 7-94404800-T-C
gnomAD v4: 7-94404800-T-C
MyVariant Identifiers: chr7:g.94034112T>C (hg19) chr7:g.94404800T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404800T>C , CM000669.2:g.94404800T>C GRCh38
NC_000007.13:g.94034112T>C , CM000669.1:g.94034112T>C GRCh37
NC_000007.12:g.93872048T>C NCBI36
NG_007405.1:g.15240T>C , LRG_2:g.15240T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.379-39T>C MANE Select ENSP00000297268.6:n.379-39T>C
ENST00000297268.10:c.379-39T>C ENSP00000297268.6:n.379-39T>C
ENST00000620463.1:c.373-39T>C ENSP00000477719.1:n.373-39T>C
NM_000089.3:c.379-39T>C , LRG_2t1:c.379-39T>C NP_000080.2:n.379-39T>C
NM_000089.4:c.379-39T>C MANE Select NP_000080.2:n.379-39T>C
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