Canonical Allele Identifier: CA1023885
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs746076884
ExAC: 1:116280807 C / T
gnomAD v2: 1-116280807-C-T
gnomAD v4: 1-115738186-C-T
MyVariant Identifiers: chr1:g.116280807C>T (hg19) chr1:g.115738186C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738186C>T , CM000663.2:g.115738186C>T GRCh38
NC_000001.10:g.116280807C>T , CM000663.1:g.116280807C>T GRCh37
NC_000001.9:g.116082330C>T NCBI36
NG_008802.1:g.35620G>A , LRG_404:g.35620G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+38G>A ENSP00000518226.1:n.256+38G>A
ENST00000261448.6:c.532+38G>A MANE Select ENSP00000261448.5:n.532+38G>A
ENST00000261448.5:c.532+38G>A ENSP00000261448.5:n.532+38G>A
NM_001232.3:c.532+38G>A , LRG_404t1:c.532+38G>A NP_001223.2:n.532+38G>A
NM_001232.4:c.532+38G>A MANE Select NP_001223.2:n.532+38G>A
Search 100 bp 5'
Search 100 bp 3'