Canonical Allele Identifier: CA4347661
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs764772059
ExAC: 7:94055867 A / C
gnomAD v2: 7-94055867-A-C
gnomAD v4: 7-94426555-A-C
MyVariant Identifiers: chr7:g.94055867A>C (hg19) chr7:g.94426555A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426555A>C , CM000669.2:g.94426555A>C GRCh38
NC_000007.13:g.94055867A>C , CM000669.1:g.94055867A>C GRCh37
NC_000007.12:g.93893803A>C NCBI36
NG_007405.1:g.36995A>C , LRG_2:g.36995A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+25A>C MANE Select ENSP00000297268.6:n.3105+25A>C
ENST00000297268.10:c.3105+25A>C ENSP00000297268.6:n.3105+25A>C
ENST00000478215.1:n.689A>C
ENST00000481570.5:n.3103A>C
ENST00000488121.1:n.21+25A>C
ENST00000620463.1:c.3099+25A>C ENSP00000477719.1:n.3099+25A>C
NM_000089.3:c.3105+25A>C , LRG_2t1:c.3105+25A>C NP_000080.2:n.3105+25A>C
NM_000089.4:c.3105+25A>C MANE Select NP_000080.2:n.3105+25A>C
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