Canonical Allele Identifier: CA331283901

Gene: SLC16A2

Linked Data

• dbSNP Id: rs1047735823
• gnomAD v2: X-73745519-TAC-T
• gnomAD v3: X-74525684-TAC-T
• gnomAD v4: X-74525684-TAC-T
• MyVariant Identifiers: chrX:g.73745520_73745521del (hg19) ; chrX:g.74525685_74525686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74525686_74525687del , CM000685.2:g.74525686_74525687del	GRCh38
NC_000023.10:g.73745521_73745522del , CM000685.1:g.73745521_73745522del	GRCh37
NC_000023.9:g.73662246_73662247del	NCBI36
NG_011641.1:g.109437_109438del
NG_011641.2:g.109437_109438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1027-64_1027-63del MANE Select	ENSP00000465734.1:n.1027-64_1027-63del
ENST00000636771.1:c.936-64_936-63del
ENST00000587091.5:c.1027-64_1027-63del	ENSP00000465734.1:n.1027-64_1027-63del
ENST00000590447.1:c.467-64_467-63del
NM_006517.4:c.1027-64_1027-63del	NP_006508.2:n.1027-64_1027-63del
XM_005262294.1:c.1027-64_1027-63del	XP_005262351.1:n.1027-64_1027-63del
XM_011531015.1:c.*31-64_*31-63del	XP_011529317.1:n.*31-64_*31-63del
NM_006517.5:c.1027-64_1027-63del MANE Select	NP_006508.2:n.1027-64_1027-63del