Canonical Allele Identifier: CA341767104
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116310995G>T (hg19) chr1:g.115768374G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768374G>T , CM000663.2:g.115768374G>T GRCh38
NC_000001.10:g.116310995G>T , CM000663.1:g.116310995G>T GRCh37
NC_000001.9:g.116112518G>T NCBI36
NG_008802.1:g.5432C>A , LRG_404:g.5432C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-109C>A ENSP00000518226.1:n.-109C>A
ENST00000261448.6:c.168C>A MANE Select ENSP00000261448.5:p.Tyr56Ter
ENST00000261448.5:c.168C>A ENSP00000261448.5:p.Tyr56Ter
NM_001232.3:c.168C>A , LRG_404t1:c.168C>A NP_001223.2:p.Tyr56Ter
NM_001232.4:c.168C>A MANE Select NP_001223.2:p.Tyr56Ter
Search 100 bp 5'
Search 100 bp 3'