Canonical Allele Identifier: CA1826277092

Gene: SLC52A2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144360350C= , CM000670.2:g.144360350C=	GRCh38
NC_000008.10:g.145584010C= , CM000670.1:g.145584010C=	GRCh37
NC_000008.9:g.145554818C=	NCBI36
NG_032872.1:g.6794C=
NG_032872.2:g.6794C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329994.7:c.858C=	ENSP00000333638.2:p.Thr286=
ENST00000526338.7:c.366C=	ENSP00000433583.3:p.Thr122=
ENST00000526752.3:c.131-453C=	ENSP00000433796.1:n.131-453C=
ENST00000526779.3:c.*170C=	ENSP00000436917.1:n.*170C=
ENST00000526891.2:c.594C=	ENSP00000502670.1:p.Thr198=
ENST00000527078.6:c.858C=	ENSP00000434728.1:p.Thr286=
ENST00000532815.2:c.858C=	ENSP00000501933.1:p.Thr286=
ENST00000533662.2:c.858C=	ENSP00000502274.1:p.Thr286=
ENST00000534725.6:c.858C=	ENSP00000431965.2:p.Thr286=
ENST00000643944.2:c.858C= MANE Select	ENSP00000496184.2:p.Thr286=
ENST00000674779.1:c.*170C=	ENSP00000501929.1:n.*170C=
ENST00000674821.1:c.*662C=	ENSP00000502219.1:n.*662C=
ENST00000674870.1:c.858C=	ENSP00000502406.1:p.Thr286=
ENST00000674929.1:c.366C=	ENSP00000501554.1:p.Thr122=
ENST00000675121.1:c.858C=	ENSP00000501993.1:p.Thr286=
ENST00000675280.1:c.858C=	ENSP00000502796.1:p.Thr286=
ENST00000675292.1:c.858C=	ENSP00000502652.1:p.Thr286=
ENST00000675597.1:c.366C=	ENSP00000501973.1:p.Thr122=
ENST00000675787.1:c.858C=	ENSP00000502189.1:p.Thr286=
ENST00000675888.1:c.858C=	ENSP00000502294.1:p.Thr286=
ENST00000675998.1:n.410C=
ENST00000676094.1:c.309C=	ENSP00000502066.1:p.Thr103=
ENST00000676358.1:c.*170C=	ENSP00000501821.1:n.*170C=
ENST00000329994.6:c.858C=	ENSP00000333638.2:p.Thr286=
ENST00000402965.5:c.858C=	ENSP00000385961.1:p.Thr286=
ENST00000526338.5:c.366C=	ENSP00000433583.1:p.Thr122=
ENST00000526752.1:c.131-453C=	ENSP00000433796.1:n.131-453C=
ENST00000526779.1:c.*170C=	ENSP00000436917.1:n.*170C=
ENST00000527078.5:c.858C=	ENSP00000434728.1:p.Thr286=
ENST00000530047.5:c.858C=	ENSP00000435820.1:p.Thr286=
ENST00000532887.5:c.858C=	ENSP00000436768.1:p.Thr286=
NM_001253815.1:c.858C=	NP_001240744.1:p.Thr286=
NM_001253816.1:c.858C=	NP_001240745.1:p.Thr286=
NM_024531.4:c.858C=	NP_078807.1:p.Thr286=
NR_045600.1:n.1350C=
XM_006716658.1:c.858C=	XP_006716721.1:p.Thr286=
XM_006716659.1:c.858C=	XP_006716722.1:p.Thr286=
XM_006716660.1:c.858C=	XP_006716723.1:p.Thr286=
XM_011517300.1:c.594C=	XP_011515602.1:p.Thr198=
NM_001363118.1:c.858C=	NP_001350047.1:p.Thr286=
NM_001363120.1:c.858C=	NP_001350049.1:p.Thr286=
NM_001363121.1:c.858C=	NP_001350050.1:p.Thr286=
NM_001363122.1:c.366C=	NP_001350051.1:p.Thr122=
XM_011517300.2:c.594C=	XP_011515602.1:p.Thr198=
XM_017013821.1:c.366C=	XP_016869310.1:p.Thr122=
XM_017013822.1:c.366C=	XP_016869311.1:p.Thr122=
NM_001253815.2:c.858C=	NP_001240744.1:p.Thr286=
NM_001253816.2:c.858C=	NP_001240745.1:p.Thr286=
NM_001363118.2:c.858C= MANE Select	NP_001350047.1:p.Thr286=
NM_001363120.2:c.858C=	NP_001350049.1:p.Thr286=
NM_001363121.2:c.858C=	NP_001350050.1:p.Thr286=
NM_001363122.2:c.366C=	NP_001350051.1:p.Thr122=
NM_024531.5:c.858C=	NP_078807.1:p.Thr286=
NR_045600.2:n.1318C=