Canonical Allele Identifier: CA4347796
Gene: COL1A2 HGNC NCBI
COSMIC:
COSM3924266 (not active)
MyVariant.info:
GRCh38 chr7:g.94428367G>A
GRCh37 chr7:g.94057679G>A
Revel Score:
ENST00000297268 (MANE Select) 0.711
ENST00000545487 0.711
gnomAD v2:
7:94057679 G / A
gnomAD v3:
7:94428367 G / A
gnomAD v4:
chr7-94428367-G-A
Joint Max Group AF 0.00004375 (AFR)
Genomes Max Group AF 0.00003251 (AFR)
Exomes Max Group AF 0.00002374 (AFR)
ClinVar RCV:
RCV002654952
ClinVar Variation:
2201327
dbSNP:
72659343
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94428367G>A , CM000669.2:g.94428367G>A GRCh38
NC_000007.13:g.94057679G>A , CM000669.1:g.94057679G>A GRCh37
NC_000007.12:g.93895615G>A NCBI36
NG_007405.1:g.38807G>A , LRG_2:g.38807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3601G>A MANE Select ENSP00000297268.6:p.Glu1201Lys
ENST00000297268.10:c.3601G>A ENSP00000297268.6:p.Glu1201Lys
ENST00000464916.1:n.649G>A
ENST00000481570.5:n.4382G>A
ENST00000620463.1:c.3595G>A ENSP00000477719.1:p.Glu1199Lys
NM_000089.3:c.3601G>A , LRG_2t1:c.3601G>A NP_000080.2:p.Glu1201Lys
NM_000089.4:c.3601G>A MANE Select NP_000080.2:p.Glu1201Lys
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