Canonical Allele Identifier: CA4347450
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94423009G>A
GRCh37 chr7:g.94052321G>A
Revel Score:
ENST00000297268 (MANE Select) 0.607
ENST00000545487 0.607
gnomAD v2:
7:94052321 G / A
gnomAD v3:
7:94423009 G / A
gnomAD v4:
chr7-94423009-G-A
Joint Max Group AF 0.00015022 (NFE)
Genomes Max Group AF 0.00009052 (NFE)
Exomes Max Group AF 0.00014964 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423009G>A , CM000669.2:g.94423009G>A GRCh38
NC_000007.13:g.94052321G>A , CM000669.1:g.94052321G>A GRCh37
NC_000007.12:g.93890257G>A NCBI36
NG_007405.1:g.33449G>A , LRG_2:g.33449G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2456G>A MANE Select ENSP00000297268.6:p.Arg819His
ENST00000297268.10:c.2456G>A ENSP00000297268.6:p.Arg819His
ENST00000481570.5:n.539G>A
ENST00000497316.5:n.853G>A
ENST00000620463.1:c.2450G>A ENSP00000477719.1:p.Arg817His
NM_000089.3:c.2456G>A , LRG_2t1:c.2456G>A NP_000080.2:p.Arg819His
NM_000089.4:c.2456G>A MANE Select NP_000080.2:p.Arg819His
Search 100 bp 5'
Search 100 bp 3'