Canonical Allele Identifier: CA2574141235

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768260C>A , CM000663.2:g.115768260C>A	GRCh38
NC_000001.10:g.116310881C>A , CM000663.1:g.116310881C>A	GRCh37
NC_000001.9:g.116112404C>A	NCBI36
NG_008802.1:g.5546G>T , LRG_404:g.5546G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-43+48G>T	ENSP00000518226.1:n.-43+48G>T
ENST00000261448.6:c.234+48G>T MANE Select	ENSP00000261448.5:n.234+48G>T
ENST00000261448.5:c.234+48G>T	ENSP00000261448.5:n.234+48G>T
NM_001232.3:c.234+48G>T , LRG_404t1:c.234+48G>T	NP_001223.2:n.234+48G>T
NM_001232.4:c.234+48G>T MANE Select	NP_001223.2:n.234+48G>T