Canonical Allele Identifier: CA12515177
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94424688T>C
GRCh37 chr7:g.94054000T>C
gnomAD v2:
7:94054000 T / C
gnomAD v3:
7:94424688 T / C
gnomAD v4:
chr7-94424688-T-C
Joint Max Group AF 0.9155909 (EAS)
Genomes Max Group AF 0.8866638 (EAS)
Exomes Max Group AF 0.91826588 (EAS)
ClinVar RCV:
RCV001641467
ClinVar Variation:
1242663
dbSNP:
441051
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94424688T>C , CM000669.2:g.94424688T>C GRCh38
NC_000007.13:g.94054000T>C , CM000669.1:g.94054000T>C GRCh37
NC_000007.12:g.93891936T>C NCBI36
NG_007405.1:g.35128T>C , LRG_2:g.35128T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2673+245T>C MANE Select ENSP00000297268.6:n.2673+245T>C
ENST00000297268.10:c.2673+245T>C ENSP00000297268.6:n.2673+245T>C
ENST00000469732.1:n.456+245T>C
ENST00000481570.5:n.2218T>C
ENST00000620463.1:c.2667+245T>C ENSP00000477719.1:n.2667+245T>C
NM_000089.3:c.2673+245T>C , LRG_2t1:c.2673+245T>C NP_000080.2:n.2673+245T>C
NM_000089.4:c.2673+245T>C MANE Select NP_000080.2:n.2673+245T>C
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