Canonical Allele Identifier: CA2647257772
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115703008-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115703008A>C , CM000663.2:g.115703008A>C GRCh38
NC_000001.10:g.116245629A>C , CM000663.1:g.116245629A>C GRCh37
NC_000001.9:g.116047152A>C NCBI36
NG_008802.1:g.70798T>G , LRG_404:g.70798T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*312-13T>G ENSP00000518226.1:n.*312-13T>G
ENST00000261448.6:c.940-13T>G MANE Select ENSP00000261448.5:n.940-13T>G
ENST00000261448.5:c.940-13T>G ENSP00000261448.5:n.940-13T>G
NM_001232.3:c.940-13T>G , LRG_404t1:c.940-13T>G NP_001223.2:n.940-13T>G
NM_001232.4:c.940-13T>G MANE Select NP_001223.2:n.940-13T>G
Search 100 bp 5'
Search 100 bp 3'