Canonical Allele Identifier: CA4938176

Gene: SLC52A2

Linked Data

• ClinVar Variation Id: 1006486
• ClinVar RCV Id: RCV001303535
• dbSNP Id: rs200753132
• ExAC: 8:145583523 C / T
• gnomAD v2: 8-145583523-C-T
• gnomAD v3: 8-144359863-C-T
• gnomAD v4: 8-144359863-C-T
• MyVariant Identifiers: chr8:g.145583523C>T (hg19) ; chr8:g.144359863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144359863C>T , CM000670.2:g.144359863C>T	GRCh38
NC_000008.10:g.145583523C>T , CM000670.1:g.145583523C>T	GRCh37
NC_000008.9:g.145554331C>T	NCBI36
NG_032872.1:g.6307C>T
NG_032872.2:g.6307C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329994.7:c.371C>T	ENSP00000333638.2:p.Ala124Val
ENST00000526338.7:c.131-252C>T	ENSP00000433583.3:n.131-252C>T
ENST00000526752.3:c.130+440C>T	ENSP00000433796.1:n.130+440C>T
ENST00000526779.3:c.255+116C>T	ENSP00000436917.1:n.255+116C>T
ENST00000526891.2:c.107C>T	ENSP00000502670.1:p.Ala36Val
ENST00000527078.6:c.371C>T	ENSP00000434728.1:p.Ala124Val
ENST00000532815.2:c.371C>T	ENSP00000501933.1:p.Ala124Val
ENST00000533662.2:c.371C>T	ENSP00000502274.1:p.Ala124Val
ENST00000534725.6:c.371C>T	ENSP00000431965.2:p.Ala124Val
ENST00000643944.2:c.371C>T MANE Select	ENSP00000496184.2:p.Ala124Val
ENST00000674779.1:c.234+137C>T	ENSP00000501929.1:n.234+137C>T
ENST00000674821.1:c.*175C>T	ENSP00000502219.1:n.*175C>T
ENST00000674870.1:c.371C>T	ENSP00000502406.1:p.Ala124Val
ENST00000674929.1:c.131-252C>T	ENSP00000501554.1:n.131-252C>T
ENST00000675121.1:c.371C>T	ENSP00000501993.1:p.Ala124Val
ENST00000675280.1:c.371C>T	ENSP00000502796.1:p.Ala124Val
ENST00000675292.1:c.371C>T	ENSP00000502652.1:p.Ala124Val
ENST00000675597.1:c.131-252C>T	ENSP00000501973.1:n.131-252C>T
ENST00000675787.1:c.371C>T	ENSP00000502189.1:p.Ala124Val
ENST00000675888.1:c.371C>T	ENSP00000502294.1:p.Ala124Val
ENST00000676094.1:c.131-309C>T	ENSP00000502066.1:n.131-309C>T
ENST00000676358.1:c.255+116C>T	ENSP00000501821.1:n.255+116C>T
ENST00000329994.6:c.371C>T	ENSP00000333638.2:p.Ala124Val
ENST00000402965.5:c.371C>T	ENSP00000385961.1:p.Ala124Val
ENST00000526338.5:c.131-252C>T	ENSP00000433583.1:n.131-252C>T
ENST00000526752.1:c.130+440C>T	ENSP00000433796.1:n.130+440C>T
ENST00000526779.1:c.255+116C>T	ENSP00000436917.1:n.255+116C>T
ENST00000526891.1:n.454C>T
ENST00000527078.5:c.371C>T	ENSP00000434728.1:p.Ala124Val
ENST00000530047.5:c.371C>T	ENSP00000435820.1:p.Ala124Val
ENST00000532887.5:c.371C>T	ENSP00000436768.1:p.Ala124Val
ENST00000533662.1:n.1070C>T
ENST00000534725.5:c.371C>T	ENSP00000431965.1:p.Ala124Val
NM_001253815.1:c.371C>T	NP_001240744.1:p.Ala124Val
NM_001253816.1:c.371C>T	NP_001240745.1:p.Ala124Val
NM_024531.4:c.371C>T	NP_078807.1:p.Ala124Val
NR_045600.1:n.863C>T
XM_006716658.1:c.371C>T	XP_006716721.1:p.Ala124Val
XM_006716659.1:c.371C>T	XP_006716722.1:p.Ala124Val
XM_006716660.1:c.371C>T	XP_006716723.1:p.Ala124Val
XM_011517300.1:c.107C>T	XP_011515602.1:p.Ala36Val
NM_001363118.1:c.371C>T	NP_001350047.1:p.Ala124Val
NM_001363120.1:c.371C>T	NP_001350049.1:p.Ala124Val
NM_001363121.1:c.371C>T	NP_001350050.1:p.Ala124Val
NM_001363122.1:c.131-252C>T	NP_001350051.1:n.131-252C>T
XM_011517300.2:c.107C>T	XP_011515602.1:p.Ala36Val
XM_017013821.1:c.131-252C>T	XP_016869310.1:n.131-252C>T
XM_017013822.1:c.131-252C>T	XP_016869311.1:n.131-252C>T
NM_001253815.2:c.371C>T	NP_001240744.1:p.Ala124Val
NM_001253816.2:c.371C>T	NP_001240745.1:p.Ala124Val
NM_001363118.2:c.371C>T MANE Select	NP_001350047.1:p.Ala124Val
NM_001363120.2:c.371C>T	NP_001350049.1:p.Ala124Val
NM_001363121.2:c.371C>T	NP_001350050.1:p.Ala124Val
NM_001363122.2:c.131-252C>T	NP_001350051.1:n.131-252C>T
NM_024531.5:c.371C>T	NP_078807.1:p.Ala124Val
NR_045600.2:n.831C>T