Canonical Allele Identifier: CA642553822
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1438700040
gnomAD v2: X-73748997-T-C
gnomAD v3: X-74529162-T-C
gnomAD v4: X-74529162-T-C
MyVariant Identifiers: chrX:g.73748997T>C (hg19) chrX:g.74529162T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529162T>C , CM000685.2:g.74529162T>C GRCh38
NC_000023.10:g.73748997T>C , CM000685.1:g.73748997T>C GRCh37
NC_000023.9:g.73665722T>C NCBI36
NG_011641.1:g.112913T>C
NG_011641.2:g.112913T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1171-51T>C MANE Select ENSP00000465734.1:n.1171-51T>C
ENST00000636771.1:c.1080-51T>C
ENST00000587091.5:c.1171-51T>C ENSP00000465734.1:n.1171-51T>C
ENST00000590447.1:c.611-2171T>C
NM_006517.4:c.1171-51T>C NP_006508.2:n.1171-51T>C
XM_005262294.1:c.1171-2171T>C XP_005262351.1:n.1171-2171T>C
NM_006517.5:c.1171-51T>C MANE Select NP_006508.2:n.1171-51T>C
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