Canonical Allele Identifier: CA885890451
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs4074537
gnomAD v4: 1-115768577-T-A
MyVariant Identifiers: chr1:g.116311198T>A (hg19) chr1:g.115768577T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768577T>A , CM000663.2:g.115768577T>A GRCh38
NC_000001.10:g.116311198T>A , CM000663.1:g.116311198T>A GRCh37
NC_000001.9:g.116112721T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-89A>T ENSP00000518226.1:n.-223-89A>T
ENST00000261448.6:c.-36A>T MANE Select ENSP00000261448.5:n.-36A>T
ENST00000261448.5:c.-36A>T ENSP00000261448.5:n.-36A>T
NM_001232.4:c.-36A>T MANE Select NP_001223.2:n.-36A>T
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