Canonical Allele Identifier: CA2573142996

Gene: SLC52A2

Linked Data

• ClinVar Variation Id: 1458358
• ClinVar RCV Id: RCV001972860
• dbSNP Id: rs2130638836

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144359771_144359775del , CM000670.2:g.144359771_144359775del	GRCh38
NC_000008.10:g.145583431_145583435del , CM000670.1:g.145583431_145583435del	GRCh37
NC_000008.9:g.145554239_145554243del	NCBI36
NG_032872.1:g.6215_6219del
NG_032872.2:g.6215_6219del

Transcript Alleles

HGVS	Amino-acid change
ENST00000329994.7:c.279_283del	ENSP00000333638.2:p.Leu94GlyfsTer?
ENST00000526338.7:c.131-344_131-340del	ENSP00000433583.3:n.131-344_131-340del
ENST00000526752.3:c.130+348_130+352del	ENSP00000433796.1:n.130+348_130+352del
ENST00000526779.3:c.255+24_255+28del	ENSP00000436917.1:n.255+24_255+28del
ENST00000526891.2:c.15_19del	ENSP00000502670.1:p.Leu6GlyfsTer?
ENST00000527078.6:c.279_283del	ENSP00000434728.1:p.Leu94GlyfsTer?
ENST00000532815.2:c.279_283del	ENSP00000501933.1:p.Leu94GlyfsTer?
ENST00000533662.2:c.279_283del	ENSP00000502274.1:p.Leu94GlyfsTer?
ENST00000534725.6:c.279_283del	ENSP00000431965.2:p.Leu94GlyfsTer?
ENST00000643944.2:c.279_283del MANE Select	ENSP00000496184.2:p.Leu94GlyfsTer?
ENST00000674779.1:c.234+45_234+49del	ENSP00000501929.1:n.234+45_234+49del
ENST00000674821.1:c.*83_*87del	ENSP00000502219.1:n.*83_*87del
ENST00000674870.1:c.279_283del	ENSP00000502406.1:p.Leu94GlyfsTer?
ENST00000674929.1:c.131-344_131-340del	ENSP00000501554.1:n.131-344_131-340del
ENST00000675121.1:c.279_283del	ENSP00000501993.1:p.Leu94GlyfsTer?
ENST00000675280.1:c.279_283del	ENSP00000502796.1:p.Leu94GlyfsTer?
ENST00000675292.1:c.279_283del	ENSP00000502652.1:p.Leu94GlyfsTer?
ENST00000675597.1:c.131-344_131-340del	ENSP00000501973.1:n.131-344_131-340del
ENST00000675787.1:c.279_283del	ENSP00000502189.1:p.Leu94GlyfsTer?
ENST00000675888.1:c.279_283del	ENSP00000502294.1:p.Leu94GlyfsTer?
ENST00000676094.1:c.130+348_130+352del	ENSP00000502066.1:n.130+348_130+352del
ENST00000676358.1:c.255+24_255+28del	ENSP00000501821.1:n.255+24_255+28del
ENST00000329994.6:c.279_283del	ENSP00000333638.2:p.Leu94GlyfsTer?
ENST00000402965.5:c.279_283del	ENSP00000385961.1:p.Leu94GlyfsTer?
ENST00000526338.5:c.131-344_131-340del	ENSP00000433583.1:n.131-344_131-340del
ENST00000526752.1:c.130+348_130+352del	ENSP00000433796.1:n.130+348_130+352del
ENST00000526779.1:c.255+24_255+28del	ENSP00000436917.1:n.255+24_255+28del
ENST00000526891.1:n.362_366del
ENST00000527078.5:c.279_283del	ENSP00000434728.1:p.Leu94GlyfsTer?
ENST00000530047.5:c.279_283del	ENSP00000435820.1:p.Leu94GlyfsTer?
ENST00000532887.5:c.279_283del	ENSP00000436768.1:p.Leu94GlyfsTer?
ENST00000533662.1:n.978_982del
ENST00000534725.5:c.279_283del	ENSP00000431965.1:p.Leu94GlyfsTer?
NM_001253815.1:c.279_283del	NP_001240744.1:p.Leu94GlyfsTer?
NM_001253816.1:c.279_283del	NP_001240745.1:p.Leu94GlyfsTer?
NM_024531.4:c.279_283del	NP_078807.1:p.Leu94GlyfsTer?
NR_045600.1:n.771_775del
XM_006716658.1:c.279_283del	XP_006716721.1:p.Leu94GlyfsTer?
XM_006716659.1:c.279_283del	XP_006716722.1:p.Leu94GlyfsTer?
XM_006716660.1:c.279_283del	XP_006716723.1:p.Leu94GlyfsTer?
XM_011517300.1:c.15_19del	XP_011515602.1:p.Leu6GlyfsTer?
NM_001363118.1:c.279_283del	NP_001350047.1:p.Leu94GlyfsTer?
NM_001363120.1:c.279_283del	NP_001350049.1:p.Leu94GlyfsTer?
NM_001363121.1:c.279_283del	NP_001350050.1:p.Leu94GlyfsTer?
NM_001363122.1:c.131-344_131-340del	NP_001350051.1:n.131-344_131-340del
XM_011517300.2:c.15_19del	XP_011515602.1:p.Leu6GlyfsTer?
XM_017013821.1:c.131-344_131-340del	XP_016869310.1:n.131-344_131-340del
XM_017013822.1:c.131-344_131-340del	XP_016869311.1:n.131-344_131-340del
NM_001253815.2:c.279_283del	NP_001240744.1:p.Leu94GlyfsTer?
NM_001253816.2:c.279_283del	NP_001240745.1:p.Leu94GlyfsTer?
NM_001363118.2:c.279_283del MANE Select	NP_001350047.1:p.Leu94GlyfsTer?
NM_001363120.2:c.279_283del	NP_001350049.1:p.Leu94GlyfsTer?
NM_001363121.2:c.279_283del	NP_001350050.1:p.Leu94GlyfsTer?
NM_001363122.2:c.131-344_131-340del	NP_001350051.1:n.131-344_131-340del
NM_024531.5:c.279_283del	NP_078807.1:p.Leu94GlyfsTer?
NR_045600.2:n.739_743del