Canonical Allele Identifier: CA368224000
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94423026-C-G
MyVariant Identifiers: chr7:g.94052338C>G (hg19) chr7:g.94423026C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423026C>G , CM000669.2:g.94423026C>G GRCh38
NC_000007.13:g.94052338C>G , CM000669.1:g.94052338C>G GRCh37
NC_000007.12:g.93890274C>G NCBI36
NG_007405.1:g.33466C>G , LRG_2:g.33466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2473C>G MANE Select ENSP00000297268.6:p.Gln825Glu
ENST00000297268.10:c.2473C>G ENSP00000297268.6:p.Gln825Glu
ENST00000481570.5:n.556C>G
ENST00000497316.5:n.870C>G
ENST00000620463.1:c.2467C>G ENSP00000477719.1:p.Gln823Glu
NM_000089.3:c.2473C>G , LRG_2t1:c.2473C>G NP_000080.2:p.Gln825Glu
NM_000089.4:c.2473C>G MANE Select NP_000080.2:p.Gln825Glu
Search 100 bp 5'
Search 100 bp 3'