Canonical Allele Identifier: CA4347649
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94426472C>A
GRCh37 chr7:g.94055784C>A
Revel Score:
ENST00000297268 (MANE Select) 0.271
ENST00000545487 0.271
gnomAD v2:
7:94055784 C / A
gnomAD v3:
7:94426472 C / A
gnomAD v4:
chr7-94426472-C-A
Joint Max Group AF 0.00054056 (MID)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.0005703 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426472C>A , CM000669.2:g.94426472C>A GRCh38
NC_000007.13:g.94055784C>A , CM000669.1:g.94055784C>A GRCh37
NC_000007.12:g.93893720C>A NCBI36
NG_007405.1:g.36912C>A , LRG_2:g.36912C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3047C>A MANE Select ENSP00000297268.6:p.Pro1016His
ENST00000297268.10:c.3047C>A ENSP00000297268.6:p.Pro1016His
ENST00000478215.1:n.606C>A
ENST00000481570.5:n.3020C>A
ENST00000620463.1:c.3041C>A ENSP00000477719.1:p.Pro1014His
NM_000089.3:c.3047C>A , LRG_2t1:c.3047C>A NP_000080.2:p.Pro1016His
NM_000089.4:c.3047C>A MANE Select NP_000080.2:p.Pro1016His
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