Canonical Allele Identifier: CA4347736
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94427672G>A
GRCh37 chr7:g.94056984G>A
Revel Score:
ENST00000297268 (MANE Select) 0.783
ENST00000545487 0.783
gnomAD v2:
7:94056984 G / A
gnomAD v3:
7:94427672 G / A
gnomAD v4:
chr7-94427672-G-A
Joint Max Group AF 0.00254837 (SAS)
Genomes Max Group AF 0.001301 (AMR)
Exomes Max Group AF 0.00258117 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94427672G>A , CM000669.2:g.94427672G>A GRCh38
NC_000007.13:g.94056984G>A , CM000669.1:g.94056984G>A GRCh37
NC_000007.12:g.93894920G>A NCBI36
NG_007405.1:g.38112G>A , LRG_2:g.38112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3313G>A MANE Select ENSP00000297268.6:p.Gly1105Ser
ENST00000297268.10:c.3313G>A ENSP00000297268.6:p.Gly1105Ser
ENST00000464916.1:n.361G>A
ENST00000481570.5:n.4094G>A
ENST00000620463.1:c.3307G>A ENSP00000477719.1:p.Gly1103Ser
NM_000089.3:c.3313G>A , LRG_2t1:c.3313G>A NP_000080.2:p.Gly1105Ser
NM_000089.4:c.3313G>A MANE Select NP_000080.2:p.Gly1105Ser
Search 100 bp 5'
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