Canonical Allele Identifier: CA1024011
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs763716152
ExAC: 1:116311148 G / C
MyVariant Identifiers: chr1:g.116311148G>C (hg19) chr1:g.115768527G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768527G>C , CM000663.2:g.115768527G>C GRCh38
NC_000001.10:g.116311148G>C , CM000663.1:g.116311148G>C GRCh37
NC_000001.9:g.116112671G>C NCBI36
NG_008802.1:g.5279C>G , LRG_404:g.5279C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-39C>G ENSP00000518226.1:n.-223-39C>G
ENST00000261448.6:c.15C>G MANE Select ENSP00000261448.5:p.His5Gln
ENST00000261448.5:c.15C>G ENSP00000261448.5:p.His5Gln
NM_001232.3:c.15C>G , LRG_404t1:c.15C>G NP_001223.2:p.His5Gln
NM_001232.4:c.15C>G MANE Select NP_001223.2:p.His5Gln
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