Canonical Allele Identifier: CA1190742576
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1649210015
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768581T>C , CM000663.2:g.115768581T>C GRCh38
NC_000001.10:g.116311202T>C , CM000663.1:g.116311202T>C GRCh37
NC_000001.9:g.116112725T>C NCBI36
NG_008802.1:g.5225A>G , LRG_404:g.5225A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-93A>G ENSP00000518226.1:n.-223-93A>G
ENST00000261448.6:c.-40A>G MANE Select ENSP00000261448.5:n.-40A>G
ENST00000261448.5:c.-40A>G ENSP00000261448.5:n.-40A>G
NM_001232.3:c.-40A>G , LRG_404t1:c.-40A>G NP_001223.2:n.-40A>G
NM_001232.4:c.-40A>G MANE Select NP_001223.2:n.-40A>G
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