Canonical Allele Identifier: CA343794
Gene: SLC52A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39577
ClinVar RCV Id: RCV000032777 RCV000236444 RCV000624303
dbSNP Id: rs148234606
ExAC: 8:145584264 T / C
gnomAD v2: 8-145584264-T-C
gnomAD v3: 8-144360604-T-C
gnomAD v4: 8-144360604-T-C
MyVariant Identifiers: chr8:g.145584264T>C (hg19) chr8:g.144360604T>C (hg38)
PubMed: PMID:22864630 PMID:23107375 PMID:24253200 PMID:26072523 PMID:27148561 PMID:27702554
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144360604T>C , CM000670.2:g.144360604T>C GRCh38
NC_000008.10:g.145584264T>C , CM000670.1:g.145584264T>C GRCh37
NC_000008.9:g.145555072T>C NCBI36
NG_032872.1:g.7048T>C
NG_032872.2:g.7048T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329994.7:c.1016T>C ENSP00000333638.2:p.Leu339Pro
ENST00000526338.7:c.524T>C ENSP00000433583.3:p.Leu175Pro
ENST00000526752.3:c.131-199T>C ENSP00000433796.1:n.131-199T>C
ENST00000526779.3:c.*328T>C ENSP00000436917.1:n.*328T>C
ENST00000526891.2:c.752T>C ENSP00000502670.1:p.Leu251Pro
ENST00000527078.6:c.1016T>C ENSP00000434728.1:p.Leu339Pro
ENST00000532815.2:c.1016T>C ENSP00000501933.1:p.Leu339Pro
ENST00000533662.2:c.1016T>C ENSP00000502274.1:p.Leu339Pro
ENST00000534725.6:c.1016T>C ENSP00000431965.2:p.Leu339Pro
ENST00000643944.2:c.1016T>C MANE Select ENSP00000496184.2:p.Leu339Pro
ENST00000674779.1:c.*328T>C ENSP00000501929.1:n.*328T>C
ENST00000674821.1:c.*820T>C ENSP00000502219.1:n.*820T>C
ENST00000674870.1:c.1016T>C ENSP00000502406.1:p.Leu339Pro
ENST00000674929.1:c.524T>C ENSP00000501554.1:p.Leu175Pro
ENST00000675121.1:c.1016T>C ENSP00000501993.1:p.Leu339Pro
ENST00000675280.1:c.1016T>C ENSP00000502796.1:p.Leu339Pro
ENST00000675292.1:c.1016T>C ENSP00000502652.1:p.Leu339Pro
ENST00000675597.1:c.524T>C ENSP00000501973.1:p.Leu175Pro
ENST00000675787.1:c.1005T>C ENSP00000502189.1:p.Ala335=
ENST00000675888.1:c.1016T>C ENSP00000502294.1:p.Leu339Pro
ENST00000675998.1:n.664T>C
ENST00000676094.1:c.467T>C ENSP00000502066.1:p.Leu156Pro
ENST00000676358.1:c.*328T>C ENSP00000501821.1:n.*328T>C
ENST00000329994.6:c.1016T>C ENSP00000333638.2:p.Leu339Pro
ENST00000402965.5:c.1016T>C ENSP00000385961.1:p.Leu339Pro
ENST00000526752.1:c.131-199T>C ENSP00000433796.1:n.131-199T>C
ENST00000526779.1:c.*328T>C ENSP00000436917.1:n.*328T>C
ENST00000527078.5:c.1016T>C ENSP00000434728.1:p.Leu339Pro
ENST00000530047.5:c.1016T>C ENSP00000435820.1:p.Leu339Pro
ENST00000532887.5:c.1016T>C ENSP00000436768.1:p.Leu339Pro
NM_001253815.1:c.1016T>C NP_001240744.1:p.Leu339Pro
NM_001253816.1:c.1016T>C NP_001240745.1:p.Leu339Pro
NM_024531.4:c.1016T>C NP_078807.1:p.Leu339Pro
NR_045600.1:n.1508T>C
XM_006716658.1:c.1016T>C XP_006716721.1:p.Leu339Pro
XM_006716659.1:c.1016T>C XP_006716722.1:p.Leu339Pro
XM_006716660.1:c.1016T>C XP_006716723.1:p.Leu339Pro
XM_011517300.1:c.752T>C XP_011515602.1:p.Leu251Pro
NM_001363118.1:c.1016T>C NP_001350047.1:p.Leu339Pro
NM_001363120.1:c.1016T>C NP_001350049.1:p.Leu339Pro
NM_001363121.1:c.1016T>C NP_001350050.1:p.Leu339Pro
NM_001363122.1:c.524T>C NP_001350051.1:p.Leu175Pro
XM_011517300.2:c.752T>C XP_011515602.1:p.Leu251Pro
XM_017013821.1:c.524T>C XP_016869310.1:p.Leu175Pro
XM_017013822.1:c.524T>C XP_016869311.1:p.Leu175Pro
NM_001253815.2:c.1016T>C NP_001240744.1:p.Leu339Pro
NM_001253816.2:c.1016T>C NP_001240745.1:p.Leu339Pro
NM_001363118.2:c.1016T>C MANE Select NP_001350047.1:p.Leu339Pro
NM_001363120.2:c.1016T>C NP_001350049.1:p.Leu339Pro
NM_001363121.2:c.1016T>C NP_001350050.1:p.Leu339Pro
NM_001363122.2:c.524T>C NP_001350051.1:p.Leu175Pro
NM_024531.5:c.1016T>C NP_078807.1:p.Leu339Pro
NR_045600.2:n.1476T>C
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