Canonical Allele Identifier: CA1023896
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs763380629
ExAC: 1:116280889 T / A
gnomAD v2: 1-116280889-T-A
gnomAD v4: 1-115738268-T-A
MyVariant Identifiers: chr1:g.116280889T>A (hg19) chr1:g.115738268T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738268T>A , CM000663.2:g.115738268T>A GRCh38
NC_000001.10:g.116280889T>A , CM000663.1:g.116280889T>A GRCh37
NC_000001.9:g.116082412T>A NCBI36
NG_008802.1:g.35538A>T , LRG_404:g.35538A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.212A>T ENSP00000518226.1:p.Asp71Val
ENST00000261448.6:c.488A>T MANE Select ENSP00000261448.5:p.Asp163Val
ENST00000261448.5:c.488A>T ENSP00000261448.5:p.Asp163Val
NM_001232.3:c.488A>T , LRG_404t1:c.488A>T NP_001223.2:p.Asp163Val
NM_001232.4:c.488A>T MANE Select NP_001223.2:p.Asp163Val
Search 100 bp 5'
Search 100 bp 3'