Canonical Allele Identifier: CA248849

Gene: SLC9A2

Linked Data

• ClinVar Variation Id: 218345
• ClinVar RCV Id: RCV000202593
• dbSNP Id: rs864309496
• MyVariant Identifiers: chr2:g.103324677del (hg19) ; chr2:g.102708218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102708223del , CM000664.2:g.102708223del	GRCh38
NC_000002.11:g.103324682del , CM000664.1:g.103324682del	GRCh37
NC_000002.10:g.102691114del	NCBI36
NG_050930.1:g.93690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233969.3:c.2173del MANE Select	ENSP00000233969.2:p.Gln725SerfsTer11
ENST00000233969.2:c.2173del	ENSP00000233969.2:p.Gln725SerfsTer11
NM_003048.4:c.2173del	NP_003039.2:p.Gln725SerfsTer11
NM_003048.5:c.2173del	NP_003039.2:p.Gln725SerfsTer11
NM_003048.6:c.2173del MANE Select	NP_003039.2:p.Gln725SerfsTer11