Canonical Allele Identifier: CA1190729176
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1648025929
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738058A>T , CM000663.2:g.115738058A>T GRCh38
NC_000001.10:g.116280679A>T , CM000663.1:g.116280679A>T GRCh37
NC_000001.9:g.116082202A>T NCBI36
NG_008802.1:g.35748T>A , LRG_404:g.35748T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.256+166T>A ENSP00000518226.1:n.256+166T>A
ENST00000261448.6:c.532+166T>A MANE Select ENSP00000261448.5:n.532+166T>A
ENST00000261448.5:c.532+166T>A ENSP00000261448.5:n.532+166T>A
NM_001232.3:c.532+166T>A , LRG_404t1:c.532+166T>A NP_001223.2:n.532+166T>A
NM_001232.4:c.532+166T>A MANE Select NP_001223.2:n.532+166T>A
Search 100 bp 5'
Search 100 bp 3'