Canonical Allele Identifier: CA456490315
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925171
ClinVar RCV Id: RCV003780825
dbSNP Id: rs1792278907
gnomAD v4: 7-94426431-A-G
MyVariant Identifiers: chr7:g.94055743A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426431A>G , CM000669.2:g.94426431A>G GRCh38
NC_000007.13:g.94055743A>G , CM000669.1:g.94055743A>G GRCh37
NC_000007.12:g.93893679A>G NCBI36
NG_007405.1:g.36871A>G , LRG_2:g.36871A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3006A>G MANE Select ENSP00000297268.6:p.Gln1002=
ENST00000297268.10:c.3006A>G ENSP00000297268.6:p.Gln1002=
ENST00000478215.1:n.565A>G
ENST00000481570.5:n.2979A>G
ENST00000620463.1:c.3000A>G ENSP00000477719.1:p.Gln1000=
NM_000089.3:c.3006A>G , LRG_2t1:c.3006A>G NP_000080.2:p.Gln1002=
NM_000089.4:c.3006A>G MANE Select NP_000080.2:p.Gln1002=
Search 100 bp 5'
Search 100 bp 3'