Canonical Allele Identifier: CA16618612
Gene: SLC52A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422163
ClinVar RCV Id: RCV000483042
dbSNP Id: rs1064795599

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144359627G>T , CM000670.2:g.144359627G>T GRCh38
NC_000008.10:g.145583287G>T , CM000670.1:g.145583287G>T GRCh37
NC_000008.9:g.145554095G>T NCBI36
NG_032872.1:g.6071G>T
NG_032872.2:g.6071G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329994.7:c.135G>T ENSP00000333638.2:p.Trp45Cys
ENST00000526338.7:c.130+204G>T ENSP00000433583.3:n.130+204G>T
ENST00000526752.3:c.130+204G>T ENSP00000433796.1:n.130+204G>T
ENST00000526779.3:c.135G>T ENSP00000436917.1:p.Trp45Cys
ENST00000526891.2:c.-130G>T ENSP00000502670.1:n.-130G>T
ENST00000527078.6:c.135G>T ENSP00000434728.1:p.Trp45Cys
ENST00000532815.2:c.135G>T ENSP00000501933.1:p.Trp45Cys
ENST00000533662.2:c.135G>T ENSP00000502274.1:p.Trp45Cys
ENST00000534725.6:c.135G>T ENSP00000431965.2:p.Trp45Cys
ENST00000643944.2:c.135G>T MANE Select ENSP00000496184.2:p.Trp45Cys
ENST00000674779.1:c.135G>T ENSP00000501929.1:p.Trp45Cys
ENST00000674821.1:c.233G>T ENSP00000502219.1:p.Gly78Val
ENST00000674870.1:c.135G>T ENSP00000502406.1:p.Trp45Cys
ENST00000674929.1:c.130+204G>T ENSP00000501554.1:n.130+204G>T
ENST00000675121.1:c.135G>T ENSP00000501993.1:p.Trp45Cys
ENST00000675280.1:c.135G>T ENSP00000502796.1:p.Trp45Cys
ENST00000675292.1:c.135G>T ENSP00000502652.1:p.Trp45Cys
ENST00000675597.1:c.130+204G>T ENSP00000501973.1:n.130+204G>T
ENST00000675787.1:c.135G>T ENSP00000502189.1:p.Trp45Cys
ENST00000675888.1:c.135G>T ENSP00000502294.1:p.Trp45Cys
ENST00000676094.1:c.130+204G>T ENSP00000502066.1:n.130+204G>T
ENST00000676358.1:c.135G>T ENSP00000501821.1:p.Trp45Cys
ENST00000329994.6:c.135G>T ENSP00000333638.2:p.Trp45Cys
ENST00000402965.5:c.135G>T ENSP00000385961.1:p.Trp45Cys
ENST00000524541.5:c.135G>T ENSP00000434239.1:p.Trp45Cys
ENST00000526338.5:c.130+204G>T ENSP00000433583.1:n.130+204G>T
ENST00000526752.1:c.130+204G>T ENSP00000433796.1:n.130+204G>T
ENST00000526779.1:c.135G>T ENSP00000436917.1:p.Trp45Cys
ENST00000526891.1:n.218G>T
ENST00000527078.5:c.135G>T ENSP00000434728.1:p.Trp45Cys
ENST00000530047.5:c.135G>T ENSP00000435820.1:p.Trp45Cys
ENST00000532887.5:c.135G>T ENSP00000436768.1:p.Trp45Cys
ENST00000533662.1:n.834G>T
ENST00000534725.5:c.135G>T ENSP00000431965.1:p.Trp45Cys
NM_001253815.1:c.135G>T NP_001240744.1:p.Trp45Cys
NM_001253816.1:c.135G>T NP_001240745.1:p.Trp45Cys
NM_024531.4:c.135G>T NP_078807.1:p.Trp45Cys
NR_045600.1:n.627G>T
XM_006716658.1:c.135G>T XP_006716721.1:p.Trp45Cys
XM_006716659.1:c.135G>T XP_006716722.1:p.Trp45Cys
XM_006716660.1:c.135G>T XP_006716723.1:p.Trp45Cys
XM_011517300.1:c.-130G>T XP_011515602.1:n.-130G>T
NM_001363118.1:c.135G>T NP_001350047.1:p.Trp45Cys
NM_001363120.1:c.135G>T NP_001350049.1:p.Trp45Cys
NM_001363121.1:c.135G>T NP_001350050.1:p.Trp45Cys
NM_001363122.1:c.130+204G>T NP_001350051.1:n.130+204G>T
XM_011517300.2:c.-130G>T XP_011515602.1:n.-130G>T
XM_017013821.1:c.130+204G>T XP_016869310.1:n.130+204G>T
XM_017013822.1:c.130+204G>T XP_016869311.1:n.130+204G>T
NM_001253815.2:c.135G>T NP_001240744.1:p.Trp45Cys
NM_001253816.2:c.135G>T NP_001240745.1:p.Trp45Cys
NM_001363118.2:c.135G>T MANE Select NP_001350047.1:p.Trp45Cys
NM_001363120.2:c.135G>T NP_001350049.1:p.Trp45Cys
NM_001363121.2:c.135G>T NP_001350050.1:p.Trp45Cys
NM_001363122.2:c.130+204G>T NP_001350051.1:n.130+204G>T
NM_024531.5:c.135G>T NP_078807.1:p.Trp45Cys
NR_045600.2:n.595G>T