Canonical Allele Identifier: CA29639075

Gene: CASQ2

Linked Data

• dbSNP Id: rs777449436
• MyVariant Identifiers: chr1:g.116273762G>A (hg19) ; chr1:g.115731141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115731141G>A , CM000663.2:g.115731141G>A	GRCh38
NC_000001.10:g.116273762G>A , CM000663.1:g.116273762G>A	GRCh37
NC_000001.9:g.116075285G>A	NCBI36
NG_008802.1:g.42665C>T , LRG_404:g.42665C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.425+973C>T	ENSP00000518226.1:n.425+973C>T
ENST00000261448.6:c.606+1760C>T MANE Select	ENSP00000261448.5:n.606+1760C>T
ENST00000261448.5:c.606+1760C>T	ENSP00000261448.5:n.606+1760C>T
ENST00000488931.1:n.122+973C>T
NM_001232.3:c.606+1760C>T , LRG_404t1:c.606+1760C>T	NP_001223.2:n.606+1760C>T
NM_001232.4:c.606+1760C>T MANE Select	NP_001223.2:n.606+1760C>T