Canonical Allele Identifier: CA1190729336

Gene: CASQ2

Linked Data

• dbSNP Id: rs367626528

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738414G>A , CM000663.2:g.115738414G>A	GRCh38
NC_000001.10:g.116281035G>A , CM000663.1:g.116281035G>A	GRCh37
NC_000001.9:g.116082558G>A	NCBI36
NG_008802.1:g.35392C>T , LRG_404:g.35392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-79C>T	ENSP00000518226.1:n.145-79C>T
ENST00000261448.6:c.421-79C>T MANE Select	ENSP00000261448.5:n.421-79C>T
ENST00000261448.5:c.421-79C>T	ENSP00000261448.5:n.421-79C>T
NM_001232.3:c.421-79C>T , LRG_404t1:c.421-79C>T	NP_001223.2:n.421-79C>T
NM_001232.4:c.421-79C>T MANE Select	NP_001223.2:n.421-79C>T