Canonical Allele Identifier: CA1621689389

Gene: TMEM217B TMEM217

Linked Data

• dbSNP Id: rs1150790
• gnomAD v4: 6-37212747-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37212747A>T , CM000668.2:g.37212747A>T	GRCh38
NC_000006.11:g.37180523A>T , CM000668.1:g.37180523A>T	GRCh37
NC_000006.10:g.37288501A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000497775.2:c.223T>A (TMEM217B) MANE Select	ENSP00000499172.1:p.Phe75Ile
ENST00000651039.2:c.*219T>A (TMEM217) MANE Select	ENSP00000499204.1:n.*219T>A
ENST00000336655.7:c.*250T>A (TMEM217)	ENSP00000338164.2:n.*250T>A
ENST00000356757.7:c.*219T>A (TMEM217)	ENSP00000349198.2:n.*219T>A
ENST00000478262.2:c.223T>A (TMEM217B)	ENSP00000498233.1:p.Phe75Ile
ENST00000650809.1:c.*349T>A (TMEM217)	ENSP00000498285.1:n.*349T>A
ENST00000650812.1:c.223T>A (TMEM217B)	ENSP00000498349.1:p.Phe75Ile
ENST00000650973.1:c.*359T>A (TMEM217)	ENSP00000498793.1:n.*359T>A
ENST00000651039.1:c.*219T>A (TMEM217)	ENSP00000499204.1:n.*219T>A
ENST00000651722.1:c.547T>A (TMEM217)
ENST00000652218.1:c.*224T>A (TMEM217)	ENSP00000498862.1:n.*224T>A
ENST00000652386.1:c.*219T>A (TMEM217)	ENSP00000498681.1:n.*219T>A
ENST00000652495.1:c.*144T>A (TMEM217)	ENSP00000499097.1:n.*144T>A
ENST00000336655.6:c.*250T>A (TMEM217)	ENSP00000338164.2:n.*250T>A
ENST00000356757.6:c.*219T>A (TMEM217)	ENSP00000349198.2:n.*219T>A
ENST00000478262.1:n.405T>A (TMEM217)
ENST00000497775.1:n.319T>A (TMEM217)
NM_001286401.1:c.*219T>A (TMEM217)	NP_001273330.1:n.*219T>A
NM_145316.3:c.*250T>A (TMEM217)	NP_660359.2:n.*250T>A
NR_104442.1:n.923T>A (TMEM217)
NR_104443.1:n.838T>A (TMEM217)
XM_011514368.1:c.223T>A (TMEM217)	XP_011512670.1:p.Phe75Ile
XM_011514369.1:c.223T>A (TMEM217)	XP_011512671.1:p.Phe75Ile
XM_011514370.1:c.223T>A (TMEM217)	XP_011512672.1:p.Phe75Ile
XM_011514367.2:c.*224T>A (TMEM217)	XP_011512669.1:n.*224T>A
XM_011514369.3:c.223T>A (TMEM217)	XP_011512671.1:p.Phe75Ile
XM_011514370.2:c.223T>A (TMEM217)	XP_011512672.1:p.Phe75Ile
XM_024446353.1:c.*219T>A (TMEM217)	XP_024302121.1:n.*219T>A
NM_145316.4:c.*250T>A (TMEM217)	NP_660359.2:n.*250T>A
NM_001371555.1:c.*219T>A (TMEM217)	NP_001358484.1:n.*219T>A
NM_001286401.2:c.*219T>A (TMEM217) MANE Select	NP_001273330.1:n.*219T>A
NR_104442.2:n.912T>A (TMEM217)
NR_104443.2:n.827T>A (TMEM217)
NM_001395238.1:c.*224T>A (TMEM217)	NP_001382167.1:n.*224T>A
NM_001395241.1:c.*235T>A (TMEM217)	NP_001382170.1:n.*235T>A
NM_001395242.1:c.*235T>A (TMEM217)	NP_001382171.1:n.*235T>A
NM_001395243.1:c.*224T>A (TMEM217)	NP_001382172.1:n.*224T>A
NM_001395244.1:c.*144T>A (TMEM217)	NP_001382173.1:n.*144T>A
NM_001395377.1:c.223T>A (TMEM217B)	NP_001382306.1:p.Phe75Ile
NM_001395378.1:c.223T>A (TMEM217B) MANE Select	NP_001382307.1:p.Phe75Ile
NM_001395938.1:c.223T>A (TMEM217B)	NP_001382867.1:p.Phe75Ile
NR_172517.1:n.1552T>A (TMEM217)