Canonical Allele Identifier: CA4347875
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94429359T>C
GRCh37 chr7:g.94058671T>C
Revel Score:
ENST00000297268 (MANE Select) 0.802
ENST00000545487 0.802
gnomAD v2:
7:94058671 T / C
gnomAD v3:
7:94429359 T / C
gnomAD v4:
chr7-94429359-T-C
Joint Max Group AF 0.00242976 (EAS)
Genomes Max Group AF 0.00063258 (EAS)
Exomes Max Group AF 0.00258364 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94429359T>C , CM000669.2:g.94429359T>C GRCh38
NC_000007.13:g.94058671T>C , CM000669.1:g.94058671T>C GRCh37
NC_000007.12:g.93896607T>C NCBI36
NG_007405.1:g.39799T>C , LRG_2:g.39799T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3883T>C MANE Select ENSP00000297268.6:p.Ser1295Pro
ENST00000297268.10:c.3883T>C ENSP00000297268.6:p.Ser1295Pro
ENST00000464916.1:n.931T>C
ENST00000481570.5:n.4664T>C
ENST00000620463.1:c.3877T>C ENSP00000477719.1:p.Ser1293Pro
NM_000089.3:c.3883T>C , LRG_2t1:c.3883T>C NP_000080.2:p.Ser1295Pro
NM_000089.4:c.3883T>C MANE Select NP_000080.2:p.Ser1295Pro
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