Canonical Allele Identifier: CA525631275
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1475107473
gnomAD v2: 1-116311188-C-T
gnomAD v4: 1-115768567-C-T
MyVariant Identifiers: chr1:g.116311188C>T (hg19) chr1:g.115768567C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768567C>T , CM000663.2:g.115768567C>T GRCh38
NC_000001.10:g.116311188C>T , CM000663.1:g.116311188C>T GRCh37
NC_000001.9:g.116112711C>T NCBI36
NG_008802.1:g.5239G>A , LRG_404:g.5239G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-79G>A ENSP00000518226.1:n.-223-79G>A
ENST00000261448.6:c.-26G>A MANE Select ENSP00000261448.5:n.-26G>A
ENST00000261448.5:c.-26G>A ENSP00000261448.5:n.-26G>A
NM_001232.3:c.-26G>A , LRG_404t1:c.-26G>A NP_001223.2:n.-26G>A
NM_001232.4:c.-26G>A MANE Select NP_001223.2:n.-26G>A
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