Canonical Allele Identifier: CA341767203

Gene: CASQ2

Linked Data

• MyVariant Identifiers: chr1:g.116311036T>G (hg19) ; chr1:g.115768415T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768415T>G , CM000663.2:g.115768415T>G	GRCh38
NC_000001.10:g.116311036T>G , CM000663.1:g.116311036T>G	GRCh37
NC_000001.9:g.116112559T>G	NCBI36
NG_008802.1:g.5391A>C , LRG_404:g.5391A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-150A>C	ENSP00000518226.1:n.-150A>C
ENST00000261448.6:c.127A>C MANE Select	ENSP00000261448.5:p.Lys43Gln
ENST00000261448.5:c.127A>C	ENSP00000261448.5:p.Lys43Gln
NM_001232.3:c.127A>C , LRG_404t1:c.127A>C	NP_001223.2:p.Lys43Gln
NM_001232.4:c.127A>C MANE Select	NP_001223.2:p.Lys43Gln