Canonical Allele Identifier: CA4347232
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783147
ClinVar RCV Id: RCV002413274
dbSNP Id: rs755307855
ExAC: 7:94047119 C / A
gnomAD v2: 7-94047119-C-A
gnomAD v3: 7-94417807-C-A
gnomAD v4: 7-94417807-C-A
MyVariant Identifiers: chr7:g.94047119C>A (hg19) chr7:g.94417807C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417807C>A , CM000669.2:g.94417807C>A GRCh38
NC_000007.13:g.94047119C>A , CM000669.1:g.94047119C>A GRCh37
NC_000007.12:g.93885055C>A NCBI36
NG_007405.1:g.28247C>A , LRG_2:g.28247C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1947C>A MANE Select ENSP00000297268.6:p.Gly649=
ENST00000297268.10:c.1947C>A ENSP00000297268.6:p.Gly649=
ENST00000461525.5:n.36C>A
ENST00000473573.5:n.284C>A
ENST00000497316.5:n.344C>A
ENST00000620463.1:c.1941C>A ENSP00000477719.1:p.Gly647=
NM_000089.3:c.1947C>A , LRG_2t1:c.1947C>A NP_000080.2:p.Gly649=
NM_000089.4:c.1947C>A MANE Select NP_000080.2:p.Gly649=
Search 100 bp 5'
Search 100 bp 3'