Canonical Allele Identifier: CA341767250
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2310308
ClinVar RCV Id: RCV004160251
dbSNP Id: rs1649204142
MyVariant Identifiers: chr1:g.116311056C>T (hg19) chr1:g.115768435C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768435C>T , CM000663.2:g.115768435C>T GRCh38
NC_000001.10:g.116311056C>T , CM000663.1:g.116311056C>T GRCh37
NC_000001.9:g.116112579C>T NCBI36
NG_008802.1:g.5371G>A , LRG_404:g.5371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-170G>A ENSP00000518226.1:n.-170G>A
ENST00000261448.6:c.107G>A MANE Select ENSP00000261448.5:p.Ser36Asn
ENST00000261448.5:c.107G>A ENSP00000261448.5:p.Ser36Asn
NM_001232.3:c.107G>A , LRG_404t1:c.107G>A NP_001223.2:p.Ser36Asn
NM_001232.4:c.107G>A MANE Select NP_001223.2:p.Ser36Asn
Search 100 bp 5'
Search 100 bp 3'