Canonical Allele Identifier: CA525428096

Gene: CASQ2

Linked Data

• dbSNP Id: rs1389708237
• gnomAD v2: 1-116280789-A-G
• gnomAD v3: 1-115738168-A-G
• gnomAD v4: 1-115738168-A-G
• MyVariant Identifiers: chr1:g.116280789A>G (hg19) ; chr1:g.115738168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738168A>G , CM000663.2:g.115738168A>G	GRCh38
NC_000001.10:g.116280789A>G , CM000663.1:g.116280789A>G	GRCh37
NC_000001.9:g.116082312A>G	NCBI36
NG_008802.1:g.35638T>C , LRG_404:g.35638T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.256+56T>C	ENSP00000518226.1:n.256+56T>C
ENST00000261448.6:c.532+56T>C MANE Select	ENSP00000261448.5:n.532+56T>C
ENST00000261448.5:c.532+56T>C	ENSP00000261448.5:n.532+56T>C
NM_001232.3:c.532+56T>C , LRG_404t1:c.532+56T>C	NP_001223.2:n.532+56T>C
NM_001232.4:c.532+56T>C MANE Select	NP_001223.2:n.532+56T>C