Canonical Allele Identifier: CA1006061724

Gene: CASQ2

Linked Data

• dbSNP Id: rs139281637
• gnomAD v3: 1-115738349-C-A
• gnomAD v4: 1-115738349-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738349C>A , CM000663.2:g.115738349C>A	GRCh38
NC_000001.10:g.116280970C>A , CM000663.1:g.116280970C>A	GRCh37
NC_000001.9:g.116082493C>A	NCBI36
NG_008802.1:g.35457G>T , LRG_404:g.35457G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-14G>T	ENSP00000518226.1:n.145-14G>T
ENST00000261448.6:c.421-14G>T MANE Select	ENSP00000261448.5:n.421-14G>T
ENST00000261448.5:c.421-14G>T	ENSP00000261448.5:n.421-14G>T
NM_001232.3:c.421-14G>T , LRG_404t1:c.421-14G>T	NP_001223.2:n.421-14G>T
NM_001232.4:c.421-14G>T MANE Select	NP_001223.2:n.421-14G>T