Canonical Allele Identifier: CA413656203
Gene: SLC16A2 HGNC NCBI

Linked Data

gnomAD v4: X-74421941-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421941G>T , CM000685.2:g.74421941G>T GRCh38
NC_000023.10:g.73641776G>T , CM000685.1:g.73641776G>T GRCh37
NC_000023.9:g.73558501G>T NCBI36
NG_011641.1:g.5692G>T
NG_011641.2:g.5692G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.304G>T MANE Select ENSP00000465734.1:p.Val102Leu
ENST00000636771.1:c.50G>T
ENST00000587091.5:c.304G>T ENSP00000465734.1:p.Val102Leu
NM_006517.4:c.304G>T NP_006508.2:p.Val102Leu
XM_005262294.1:c.304G>T XP_005262351.1:p.Val102Leu
XM_011531015.1:c.304G>T XP_011529317.1:p.Val102Leu
NM_006517.5:c.304G>T MANE Select NP_006508.2:p.Val102Leu