Canonical Allele Identifier: CA15509241
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94407722A>G
GRCh37 chr7:g.94037034A>G
gnomAD v2:
7:94037034 A / G
gnomAD v3:
7:94407722 A / G
gnomAD v4:
chr7-94407722-A-G
Joint Max Group AF 0.25927973 (EAS)
Genomes Max Group AF 0.2535984 (EAS)
Exomes Max Group AF 0.2586672 (EAS)
ClinVar RCV:
RCV001613994
ClinVar Variation:
1227903
dbSNP:
42517
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94407722A>G , CM000669.2:g.94407722A>G GRCh38
NC_000007.13:g.94037034A>G , CM000669.1:g.94037034A>G GRCh37
NC_000007.12:g.93874970A>G NCBI36
NG_007405.1:g.18162A>G , LRG_2:g.18162A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.595-125A>G MANE Select ENSP00000297268.6:n.595-125A>G
ENST00000297268.10:c.595-125A>G ENSP00000297268.6:n.595-125A>G
ENST00000620463.1:c.589-125A>G ENSP00000477719.1:n.589-125A>G
NM_000089.3:c.595-125A>G , LRG_2t1:c.595-125A>G NP_000080.2:n.595-125A>G
NM_000089.4:c.595-125A>G MANE Select NP_000080.2:n.595-125A>G
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