Canonical Allele Identifier: CA341767020
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768336-T-C
MyVariant Identifiers: chr1:g.116310957T>C (hg19) chr1:g.115768336T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768336T>C , CM000663.2:g.115768336T>C GRCh38
NC_000001.10:g.116310957T>C , CM000663.1:g.116310957T>C GRCh37
NC_000001.9:g.116112480T>C NCBI36
NG_008802.1:g.5470A>G , LRG_404:g.5470A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-71A>G ENSP00000518226.1:n.-71A>G
ENST00000261448.6:c.206A>G MANE Select ENSP00000261448.5:p.Gln69Arg
ENST00000261448.5:c.206A>G ENSP00000261448.5:p.Gln69Arg
NM_001232.3:c.206A>G , LRG_404t1:c.206A>G NP_001223.2:p.Gln69Arg
NM_001232.4:c.206A>G MANE Select NP_001223.2:p.Gln69Arg
Search 100 bp 5'
Search 100 bp 3'