Canonical Allele Identifier: CA2647256711
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700674-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700674G>C , CM000663.2:g.115700674G>C GRCh38
NC_000001.10:g.116243295G>C , CM000663.1:g.116243295G>C GRCh37
NC_000001.9:g.116044818G>C NCBI36
NG_008802.1:g.73132C>G , LRG_404:g.73132C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1139C>G ENSP00000518226.1:n.*1139C>G
ENST00000261448.6:c.*567C>G MANE Select ENSP00000261448.5:n.*567C>G
ENST00000261448.5:c.*567C>G ENSP00000261448.5:n.*567C>G
NM_001232.3:c.*567C>G , LRG_404t1:c.*567C>G NP_001223.2:n.*567C>G
NM_001232.4:c.*567C>G MANE Select NP_001223.2:n.*567C>G
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