Canonical Allele Identifier: CA2647281252
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768571-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768571A>C , CM000663.2:g.115768571A>C GRCh38
NC_000001.10:g.116311192A>C , CM000663.1:g.116311192A>C GRCh37
NC_000001.9:g.116112715A>C NCBI36
NG_008802.1:g.5235T>G , LRG_404:g.5235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-83T>G ENSP00000518226.1:n.-223-83T>G
ENST00000261448.6:c.-30T>G MANE Select ENSP00000261448.5:n.-30T>G
ENST00000261448.5:c.-30T>G ENSP00000261448.5:n.-30T>G
NM_001232.3:c.-30T>G , LRG_404t1:c.-30T>G NP_001223.2:n.-30T>G
NM_001232.4:c.-30T>G MANE Select NP_001223.2:n.-30T>G
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