Canonical Allele Identifier: CA1190742394

Gene: CASQ2

Linked Data

• dbSNP Id: rs1156623210

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768127C>A , CM000663.2:g.115768127C>A	GRCh38
NC_000001.10:g.116310748C>A , CM000663.1:g.116310748C>A	GRCh37
NC_000001.9:g.116112271C>A	NCBI36
NG_008802.1:g.5679G>T , LRG_404:g.5679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-43+181G>T	ENSP00000518226.1:n.-43+181G>T
ENST00000261448.6:c.234+181G>T MANE Select	ENSP00000261448.5:n.234+181G>T
ENST00000261448.5:c.234+181G>T	ENSP00000261448.5:n.234+181G>T
NM_001232.3:c.234+181G>T , LRG_404t1:c.234+181G>T	NP_001223.2:n.234+181G>T
NM_001232.4:c.234+181G>T MANE Select	NP_001223.2:n.234+181G>T