Canonical Allele Identifier: CA2745158861

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115731159C>G , CM000663.2:g.115731159C>G	GRCh38
NC_000001.10:g.116273780C>G , CM000663.1:g.116273780C>G	GRCh37
NC_000001.9:g.116075303C>G	NCBI36
NG_008802.1:g.42647G>C , LRG_404:g.42647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.425+955G>C	ENSP00000518226.1:n.425+955G>C
ENST00000261448.6:c.606+1742G>C MANE Select	ENSP00000261448.5:n.606+1742G>C
ENST00000261448.5:c.606+1742G>C	ENSP00000261448.5:n.606+1742G>C
ENST00000488931.1:n.122+955G>C
NM_001232.3:c.606+1742G>C , LRG_404t1:c.606+1742G>C	NP_001223.2:n.606+1742G>C
NM_001232.4:c.606+1742G>C MANE Select	NP_001223.2:n.606+1742G>C