Canonical Allele Identifier: CA2581713514

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768562C>G , CM000663.2:g.115768562C>G	GRCh38
NC_000001.10:g.116311183C>G , CM000663.1:g.116311183C>G	GRCh37
NC_000001.9:g.116112706C>G	NCBI36
NG_008802.1:g.5244G>C , LRG_404:g.5244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-74G>C	ENSP00000518226.1:n.-223-74G>C
ENST00000261448.6:c.-21G>C MANE Select	ENSP00000261448.5:n.-21G>C
ENST00000261448.5:c.-21G>C	ENSP00000261448.5:n.-21G>C
NM_001232.3:c.-21G>C , LRG_404t1:c.-21G>C	NP_001223.2:n.-21G>C
NM_001232.4:c.-21G>C MANE Select	NP_001223.2:n.-21G>C