Canonical Allele Identifier: CA10454404

Gene: SLC16A2

Linked Data

• dbSNP Id: rs777115035
• ExAC: X:73641935 T / G
• gnomAD v2: X-73641935-T-G
• gnomAD v4: X-74422100-T-G
• MyVariant Identifiers: chrX:g.73641935T>G (hg19) ; chrX:g.74422100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74422100T>G , CM000685.2:g.74422100T>G	GRCh38
NC_000023.10:g.73641935T>G , CM000685.1:g.73641935T>G	GRCh37
NC_000023.9:g.73558660T>G	NCBI36
NG_011641.1:g.5851T>G
NG_011641.2:g.5851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.430+33T>G MANE Select	ENSP00000465734.1:n.430+33T>G
ENST00000636771.1:c.176+33T>G
ENST00000587091.5:c.430+33T>G	ENSP00000465734.1:n.430+33T>G
NM_006517.4:c.430+33T>G	NP_006508.2:n.430+33T>G
XM_005262294.1:c.430+33T>G	XP_005262351.1:n.430+33T>G
XM_011531015.1:c.430+33T>G	XP_011529317.1:n.430+33T>G
NM_006517.5:c.430+33T>G MANE Select	NP_006508.2:n.430+33T>G