Canonical Allele Identifier: CA2647256743

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115700732-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115700732C>A , CM000663.2:g.115700732C>A	GRCh38
NC_000001.10:g.116243353C>A , CM000663.1:g.116243353C>A	GRCh37
NC_000001.9:g.116044876C>A	NCBI36
NG_008802.1:g.73074G>T , LRG_404:g.73074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.*1081G>T	ENSP00000518226.1:n.*1081G>T
ENST00000261448.6:c.*509G>T MANE Select	ENSP00000261448.5:n.*509G>T
ENST00000261448.5:c.*509G>T	ENSP00000261448.5:n.*509G>T
NM_001232.3:c.*509G>T , LRG_404t1:c.*509G>T	NP_001223.2:n.*509G>T
NM_001232.4:c.*509G>T MANE Select	NP_001223.2:n.*509G>T