Canonical Allele Identifier: CA419895520

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116280939C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738318C>G , CM000663.2:g.115738318C>G	GRCh38
NC_000001.10:g.116280939C>G , CM000663.1:g.116280939C>G	GRCh37
NC_000001.9:g.116082462C>G	NCBI36
NG_008802.1:g.35488G>C , LRG_404:g.35488G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.162G>C	ENSP00000518226.1:p.Val54=
ENST00000261448.6:c.438G>C MANE Select	ENSP00000261448.5:p.Val146=
ENST00000261448.5:c.438G>C	ENSP00000261448.5:p.Val146=
NM_001232.3:c.438G>C , LRG_404t1:c.438G>C	NP_001223.2:p.Val146=
NM_001232.4:c.438G>C MANE Select	NP_001223.2:p.Val146=