Canonical Allele Identifier: CA4938182

Gene: SLC52A2

Linked Data

• dbSNP Id: rs782808339
• ExAC: 8:145583549 C / CT
• gnomAD v2: 8-145583549-C-CT
• gnomAD v4: 8-144359889-C-CT
• MyVariant Identifiers: chr8:g.145583549_145583550insT (hg19) ; chr8:g.144359889_144359890insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144359890dup , CM000670.2:g.144359890dup	GRCh38
NC_000008.10:g.145583550dup , CM000670.1:g.145583550dup	GRCh37
NC_000008.9:g.145554358dup	NCBI36
NG_032872.1:g.6334dup
NG_032872.2:g.6334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329994.7:c.398dup	ENSP00000333638.2:p.Pro134AlafsTer?
ENST00000526338.7:c.131-225dup	ENSP00000433583.3:n.131-225dup
ENST00000526752.3:c.130+467dup	ENSP00000433796.1:n.130+467dup
ENST00000526779.3:c.255+143dup	ENSP00000436917.1:n.255+143dup
ENST00000526891.2:c.134dup	ENSP00000502670.1:p.Pro46AlafsTer?
ENST00000527078.6:c.398dup	ENSP00000434728.1:p.Pro134AlafsTer?
ENST00000532815.2:c.398dup	ENSP00000501933.1:p.Pro134AlafsTer?
ENST00000533662.2:c.398dup	ENSP00000502274.1:p.Pro134AlafsTer?
ENST00000534725.6:c.398dup	ENSP00000431965.2:p.Pro134AlafsTer?
ENST00000643944.2:c.398dup MANE Select	ENSP00000496184.2:p.Pro134AlafsTer?
ENST00000674779.1:c.234+164dup	ENSP00000501929.1:n.234+164dup
ENST00000674821.1:c.*202dup	ENSP00000502219.1:n.*202dup
ENST00000674870.1:c.398dup	ENSP00000502406.1:p.Pro134AlafsTer?
ENST00000674929.1:c.131-225dup	ENSP00000501554.1:n.131-225dup
ENST00000675121.1:c.398dup	ENSP00000501993.1:p.Pro134AlafsTer?
ENST00000675280.1:c.398dup	ENSP00000502796.1:p.Pro134AlafsTer?
ENST00000675292.1:c.398dup	ENSP00000502652.1:p.Pro134AlafsTer?
ENST00000675597.1:c.131-225dup	ENSP00000501973.1:n.131-225dup
ENST00000675787.1:c.398dup	ENSP00000502189.1:p.Pro134AlafsTer?
ENST00000675888.1:c.398dup	ENSP00000502294.1:p.Pro134AlafsTer?
ENST00000676094.1:c.131-282dup	ENSP00000502066.1:n.131-282dup
ENST00000676358.1:c.255+143dup	ENSP00000501821.1:n.255+143dup
ENST00000329994.6:c.398dup	ENSP00000333638.2:p.Pro134AlafsTer?
ENST00000402965.5:c.398dup	ENSP00000385961.1:p.Pro134AlafsTer?
ENST00000526338.5:c.131-225dup	ENSP00000433583.1:n.131-225dup
ENST00000526752.1:c.130+467dup	ENSP00000433796.1:n.130+467dup
ENST00000526779.1:c.255+143dup	ENSP00000436917.1:n.255+143dup
ENST00000526891.1:n.481dup
ENST00000527078.5:c.398dup	ENSP00000434728.1:p.Pro134AlafsTer?
ENST00000530047.5:c.398dup	ENSP00000435820.1:p.Pro134AlafsTer?
ENST00000532887.5:c.398dup	ENSP00000436768.1:p.Pro134AlafsTer?
ENST00000533662.1:n.1097dup
ENST00000534725.5:c.398dup	ENSP00000431965.1:p.Pro134AlafsTer?
NM_001253815.1:c.398dup	NP_001240744.1:p.Pro134AlafsTer?
NM_001253816.1:c.398dup	NP_001240745.1:p.Pro134AlafsTer?
NM_024531.4:c.398dup	NP_078807.1:p.Pro134AlafsTer?
NR_045600.1:n.890dup
XM_006716658.1:c.398dup	XP_006716721.1:p.Pro134AlafsTer?
XM_006716659.1:c.398dup	XP_006716722.1:p.Pro134AlafsTer?
XM_006716660.1:c.398dup	XP_006716723.1:p.Pro134AlafsTer?
XM_011517300.1:c.134dup	XP_011515602.1:p.Pro46AlafsTer?
NM_001363118.1:c.398dup	NP_001350047.1:p.Pro134AlafsTer?
NM_001363120.1:c.398dup	NP_001350049.1:p.Pro134AlafsTer?
NM_001363121.1:c.398dup	NP_001350050.1:p.Pro134AlafsTer?
NM_001363122.1:c.131-225dup	NP_001350051.1:n.131-225dup
XM_011517300.2:c.134dup	XP_011515602.1:p.Pro46AlafsTer?
XM_017013821.1:c.131-225dup	XP_016869310.1:n.131-225dup
XM_017013822.1:c.131-225dup	XP_016869311.1:n.131-225dup
NM_001253815.2:c.398dup	NP_001240744.1:p.Pro134AlafsTer?
NM_001253816.2:c.398dup	NP_001240745.1:p.Pro134AlafsTer?
NM_001363118.2:c.398dup MANE Select	NP_001350047.1:p.Pro134AlafsTer?
NM_001363120.2:c.398dup	NP_001350049.1:p.Pro134AlafsTer?
NM_001363121.2:c.398dup	NP_001350050.1:p.Pro134AlafsTer?
NM_001363122.2:c.131-225dup	NP_001350051.1:n.131-225dup
NM_024531.5:c.398dup	NP_078807.1:p.Pro134AlafsTer?
NR_045600.2:n.858dup