Canonical Allele Identifier: CA181174
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115744877G>T
GRCh37 chr1:g.116287498G>T
gnomAD v2:
1:116287498 G / T
gnomAD v3:
1:115744877 G / T
gnomAD v4:
chr1-115744877-G-T
Joint Max Group AF 0.0002528 (NFE)
Genomes Max Group AF 0.00013494 (NFE)
Exomes Max Group AF 0.00025563 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115744877G>T , CM000663.2:g.115744877G>T GRCh38
NC_000001.10:g.116287498G>T , CM000663.1:g.116287498G>T GRCh37
NC_000001.9:g.116089021G>T NCBI36
NG_008802.1:g.28929C>A , LRG_404:g.28929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-7C>A ENSP00000518226.1:n.-7C>A
ENST00000261448.6:c.270C>A MANE Select ENSP00000261448.5:p.Gly90=
ENST00000261448.5:c.270C>A ENSP00000261448.5:p.Gly90=
NM_001232.3:c.270C>A , LRG_404t1:c.270C>A NP_001223.2:p.Gly90=
NM_001232.4:c.270C>A MANE Select NP_001223.2:p.Gly90=
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