Canonical Allele Identifier: CA29603878
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs150011959
gnomAD v2: 1-116281115-A-T
gnomAD v3: 1-115738494-A-T
gnomAD v4: 1-115738494-A-T
MyVariant Identifiers: chr1:g.116281115A>T (hg19) chr1:g.115738494A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738494A>T , CM000663.2:g.115738494A>T GRCh38
NC_000001.10:g.116281115A>T , CM000663.1:g.116281115A>T GRCh37
NC_000001.9:g.116082638A>T NCBI36
NG_008802.1:g.35312T>A , LRG_404:g.35312T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-159T>A ENSP00000518226.1:n.145-159T>A
ENST00000261448.6:c.421-159T>A MANE Select ENSP00000261448.5:n.421-159T>A
ENST00000261448.5:c.421-159T>A ENSP00000261448.5:n.421-159T>A
NM_001232.3:c.421-159T>A , LRG_404t1:c.421-159T>A NP_001223.2:n.421-159T>A
NM_001232.4:c.421-159T>A MANE Select NP_001223.2:n.421-159T>A
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