Canonical Allele Identifier: CA1683380

Gene: UGP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63887419G>A , CM000664.2:g.63887419G>A	GRCh38
NC_000002.11:g.64114553G>A , CM000664.1:g.64114553G>A	GRCh37
NC_000002.10:g.63968057G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006759.4:c.1089G>A MANE Select	NP_006750.3:p.Leu363=
ENST00000337130.10:c.1089G>A MANE Select	ENSP00000338703.5:p.Leu363=
NM_001001521.1:c.1056G>A	NP_001001521.1:p.Leu352=
NM_001001521.2:c.1056G>A	NP_001001521.1:p.Leu352=
NM_001377524.1:c.1056G>A	NP_001364453.1:p.Leu352=
NM_001377525.1:c.1056G>A	NP_001364454.1:p.Leu352=
NM_001377526.1:c.729G>A	NP_001364455.1:p.Leu243=
NM_001377527.1:c.729G>A	NP_001364456.1:p.Leu243=
NM_001377528.1:c.729G>A	NP_001364457.1:p.Leu243=
NM_001377529.1:c.729G>A	NP_001364458.1:p.Leu243=
NM_006759.3:c.1089G>A	NP_006750.3:p.Leu363=
ENST00000337130.9:c.1089G>A	ENSP00000338703.5:p.Leu363=
ENST00000394417.6:c.1056G>A	ENSP00000377939.2:p.Leu352=
ENST00000394417.7:c.1056G>A	ENSP00000377939.2:p.Leu352=
ENST00000445915.6:c.1116G>A	ENSP00000411803.2:p.Leu372=
ENST00000467648.6:c.1056G>A	ENSP00000420793.2:p.Leu352=
ENST00000475550.5:n.1188G>A
ENST00000613823.1:c.1089G>A	ENSP00000482043.1:p.Leu363=
ENST00000613823.2:c.1056G>A	ENSP00000482043.2:p.Leu352=
ENST00000676780.1:c.*1278G>A	ENSP00000504593.1:n.*1278G>A
ENST00000676870.1:c.*26G>A	ENSP00000504663.1:n.*26G>A
ENST00000677841.1:c.945G>A	ENSP00000502898.1:p.Leu315=
ENST00000678298.1:c.*328G>A	ENSP00000504265.1:n.*328G>A
ENST00000678951.1:c.*999G>A	ENSP00000503329.1:n.*999G>A
ENST00000678974.1:c.*837G>A	ENSP00000503051.1:n.*837G>A
ENST00000679256.1:c.1264G>A	ENSP00000504563.1:n.1264G>A
XM_005264537.2:c.1056G>A	XP_005264594.1:p.Leu352=
XM_005264537.3:c.1056G>A	XP_005264594.1:p.Leu352=
XM_005264538.1:c.1056G>A	XP_005264595.1:p.Leu352=
XM_005264538.2:c.1056G>A	XP_005264595.1:p.Leu352=
XM_006712088.1:c.729G>A	XP_006712151.1:p.Leu243=
XM_006712088.2:c.729G>A	XP_006712151.1:p.Leu243=
XM_011533091.1:c.729G>A	XP_011531393.1:p.Leu243=
XM_017004855.2:c.729G>A	XP_016860344.1:p.Leu243=
XM_017004856.1:c.729G>A	XP_016860345.1:p.Leu243=
XM_017004857.2:c.729G>A	XP_016860346.1:p.Leu243=
XM_024453120.1:c.1056G>A	XP_024308888.1:p.Leu352=
XM_024453121.1:c.729G>A	XP_024308889.1:p.Leu243=
XM_024453122.1:c.729G>A	XP_024308890.1:p.Leu243=
XM_024453123.1:c.729G>A	XP_024308891.1:p.Leu243=
XM_024453124.1:c.729G>A	XP_024308892.1:p.Leu243=