Canonical Allele Identifier: CA2647256731

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115700721-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115700721C>A , CM000663.2:g.115700721C>A	GRCh38
NC_000001.10:g.116243342C>A , CM000663.1:g.116243342C>A	GRCh37
NC_000001.9:g.116044865C>A	NCBI36
NG_008802.1:g.73085G>T , LRG_404:g.73085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.*1092G>T	ENSP00000518226.1:n.*1092G>T
ENST00000261448.6:c.*520G>T MANE Select	ENSP00000261448.5:n.*520G>T
ENST00000261448.5:c.*520G>T	ENSP00000261448.5:n.*520G>T
NM_001232.3:c.*520G>T , LRG_404t1:c.*520G>T	NP_001223.2:n.*520G>T
NM_001232.4:c.*520G>T MANE Select	NP_001223.2:n.*520G>T