Canonical Allele Identifier: CA2159289

Gene: HTR2B PSMD1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231108801G>A , CM000664.2:g.231108801G>A	GRCh38
NC_000002.11:g.231973515G>A , CM000664.1:g.231973515G>A	GRCh37
NC_000002.10:g.231681759G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258400.4:c.1162C>T (HTR2B) MANE Select	ENSP00000258400.3:p.Arg388Trp
ENST00000308696.11:c.1883+21620G>A (PSMD1) MANE Select	ENSP00000309474.6:n.1883+21620G>A
ENST00000373635.9:c.1883+21620G>A (PSMD1)	ENSP00000362738.4:n.1883+21620G>A
ENST00000409643.6:c.1883+21620G>A (PSMD1)	ENSP00000386932.2:n.1883+21620G>A
ENST00000431051.6:c.*1566+21620G>A (PSMD1)	ENSP00000400483.1:n.*1566+21620G>A
ENST00000619128.5:c.1883+21620G>A (PSMD1)	ENSP00000479986.2:n.1883+21620G>A
ENST00000676506.1:n.2045+21620G>A (PSMD1)
ENST00000676739.1:n.2060+21620G>A (PSMD1)
ENST00000676740.1:c.1883+21620G>A (PSMD1)	ENSP00000502965.1:n.1883+21620G>A
ENST00000676818.1:c.1883+21620G>A (PSMD1)	ENSP00000504827.1:n.1883+21620G>A
ENST00000677000.1:c.1883+21620G>A (PSMD1)	ENSP00000502972.1:n.1883+21620G>A
ENST00000677158.1:c.1475+21620G>A (PSMD1)	ENSP00000504825.1:n.1475+21620G>A
ENST00000677180.1:c.1883+21620G>A (PSMD1)	ENSP00000504399.1:n.1883+21620G>A
ENST00000677195.1:n.1342+21620G>A (PSMD1)
ENST00000677230.1:c.1883+21620G>A (PSMD1)	ENSP00000503068.1:n.1883+21620G>A
ENST00000677233.1:n.2060+21620G>A (PSMD1)
ENST00000677259.1:c.1883+21620G>A (PSMD1)	ENSP00000504229.1:n.1883+21620G>A
ENST00000677724.1:c.1883+21620G>A (PSMD1)	ENSP00000503532.1:n.1883+21620G>A
ENST00000678112.1:c.1883+21620G>A (PSMD1)	ENSP00000503748.1:n.1883+21620G>A
ENST00000678140.1:c.*1505+21620G>A (PSMD1)	ENSP00000502916.1:n.*1505+21620G>A
ENST00000678241.1:c.*717+21620G>A (PSMD1)	ENSP00000503867.1:n.*717+21620G>A
ENST00000678460.1:c.1818+23687G>A (PSMD1)	ENSP00000503826.1:n.1818+23687G>A
ENST00000678632.1:n.2060+21620G>A (PSMD1)
ENST00000678679.1:c.1818+23687G>A (PSMD1)	ENSP00000503840.1:n.1818+23687G>A
ENST00000679034.1:c.1883+21620G>A (PSMD1)	ENSP00000502852.1:n.1883+21620G>A
ENST00000679095.1:c.1883+21620G>A (PSMD1)	ENSP00000503973.1:n.1883+21620G>A
ENST00000258400.3:c.1162C>T (HTR2B)	ENSP00000258400.3:p.Arg388Trp
ENST00000308696.10:c.1883+21620G>A (PSMD1)	ENSP00000309474.6:n.1883+21620G>A
ENST00000373635.8:c.1883+21620G>A (PSMD1)	ENSP00000362738.4:n.1883+21620G>A
ENST00000409643.5:c.1883+21620G>A (PSMD1)	ENSP00000386932.1:n.1883+21620G>A
ENST00000431051.5:c.*1566+21620G>A (PSMD1)	ENSP00000400483.1:n.*1566+21620G>A
ENST00000447633.1:c.361+21620G>A (PSMD1)
ENST00000488354.1:n.338G>A (PSMD1)
ENST00000619128.4:c.1883+21620G>A (PSMD1)	ENSP00000479986.1:n.1883+21620G>A
NM_000867.4:c.1162C>T (HTR2B)	NP_000858.3:p.Arg388Trp
NM_001191037.1:c.1883+21620G>A (PSMD1)	NP_001177966.1:n.1883+21620G>A
NM_002807.3:c.1883+21620G>A (PSMD1)	NP_002798.2:n.1883+21620G>A
NR_034059.1:n.1875+21620G>A (PSMD1)
XM_005246520.3:c.805C>T (HTR2B)	XP_005246577.1:p.Arg269Trp
XM_006712482.2:c.1087C>T (HTR2B)	XP_006712545.1:p.Arg363Trp
XM_011511073.1:c.1036C>T (HTR2B)	XP_011509375.1:p.Arg346Trp
NM_001320758.1:c.1036C>T (HTR2B)	NP_001307687.1:p.Arg346Trp
XM_005246520.4:c.805C>T (HTR2B)	XP_005246577.1:p.Arg269Trp
XM_006712482.3:c.1087C>T (HTR2B)	XP_006712545.1:p.Arg363Trp
NM_000867.5:c.1162C>T (HTR2B) MANE Select	NP_000858.3:p.Arg388Trp
NM_002807.4:c.1883+21620G>A (PSMD1) MANE Select	NP_002798.2:n.1883+21620G>A
NM_001320758.2:c.1036C>T (HTR2B)	NP_001307687.1:p.Arg346Trp
NM_001191037.2:c.1883+21620G>A (PSMD1)	NP_001177966.1:n.1883+21620G>A
NR_034059.2:n.1872+21620G>A (PSMD1)