Canonical Allele Identifier: CA1024006
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs140238747
ExAC: 1:116311098 C / T
MyVariant Identifiers: chr1:g.116311098C>T (hg19) chr1:g.115768477C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768477C>T , CM000663.2:g.115768477C>T GRCh38
NC_000001.10:g.116311098C>T , CM000663.1:g.116311098C>T GRCh37
NC_000001.9:g.116112621C>T NCBI36
NG_008802.1:g.5329G>A , LRG_404:g.5329G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-212G>A ENSP00000518226.1:n.-212G>A
ENST00000261448.6:c.65G>A MANE Select ENSP00000261448.5:p.Gly22Glu
ENST00000261448.5:c.65G>A ENSP00000261448.5:p.Gly22Glu
NM_001232.3:c.65G>A , LRG_404t1:c.65G>A NP_001223.2:p.Gly22Glu
NM_001232.4:c.65G>A MANE Select NP_001223.2:p.Gly22Glu
Search 100 bp 5'
Search 100 bp 3'