Canonical Allele Identifier: CA1190742572
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs4074537
gnomAD v4: 1-115768577-T-G
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Genomic Alleles

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

Transcript Alleles

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