Canonical Allele Identifier: CA341767419
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768514-C-G
MyVariant Identifiers: chr1:g.116311135C>G (hg19) chr1:g.115768514C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768514C>G , CM000663.2:g.115768514C>G GRCh38
NC_000001.10:g.116311135C>G , CM000663.1:g.116311135C>G GRCh37
NC_000001.9:g.116112658C>G NCBI36
NG_008802.1:g.5292G>C , LRG_404:g.5292G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-26G>C ENSP00000518226.1:n.-223-26G>C
ENST00000261448.6:c.28G>C MANE Select ENSP00000261448.5:p.Gly10Arg
ENST00000261448.5:c.28G>C ENSP00000261448.5:p.Gly10Arg
NM_001232.3:c.28G>C , LRG_404t1:c.28G>C NP_001223.2:p.Gly10Arg
NM_001232.4:c.28G>C MANE Select NP_001223.2:p.Gly10Arg
Search 100 bp 5'
Search 100 bp 3'