Canonical Allele Identifier: CA1023634
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115701429G>A
GRCh37 chr1:g.116244050G>A
gnomAD v2:
1:116244050 G / A
gnomAD v3:
1:115701429 G / A
gnomAD v4:
chr1-115701429-G-A
Joint Max Group AF 0.00002781 (NFE)
Genomes Max Group AF 0.00009046 (NFE)
Exomes Max Group AF 0.00002111 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115701429G>A , CM000663.2:g.115701429G>A GRCh38
NC_000001.10:g.116244050G>A , CM000663.1:g.116244050G>A GRCh37
NC_000001.9:g.116045573G>A NCBI36
NG_008802.1:g.72377C>T , LRG_404:g.72377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*387-3C>T ENSP00000518226.1:n.*387-3C>T
ENST00000261448.6:c.1015-3C>T MANE Select ENSP00000261448.5:n.1015-3C>T
ENST00000261448.5:c.1015-3C>T ENSP00000261448.5:n.1015-3C>T
NM_001232.3:c.1015-3C>T , LRG_404t1:c.1015-3C>T NP_001223.2:n.1015-3C>T
NM_001232.4:c.1015-3C>T MANE Select NP_001223.2:n.1015-3C>T
Search 100 bp 5'
Search 100 bp 3'