Canonical Allele Identifier: CA341767349
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1649205795
gnomAD v4: 1-115768482-T-G
MyVariant Identifiers: chr1:g.116311103T>G (hg19) chr1:g.115768482T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768482T>G , CM000663.2:g.115768482T>G GRCh38
NC_000001.10:g.116311103T>G , CM000663.1:g.116311103T>G GRCh37
NC_000001.9:g.116112626T>G NCBI36
NG_008802.1:g.5324A>C , LRG_404:g.5324A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-217A>C ENSP00000518226.1:n.-217A>C
ENST00000261448.6:c.60A>C MANE Select ENSP00000261448.5:p.Glu20Asp
ENST00000261448.5:c.60A>C ENSP00000261448.5:p.Glu20Asp
NM_001232.3:c.60A>C , LRG_404t1:c.60A>C NP_001223.2:p.Glu20Asp
NM_001232.4:c.60A>C MANE Select NP_001223.2:p.Glu20Asp
Search 100 bp 5'
Search 100 bp 3'