Canonical Allele Identifier: CA2678535587

Gene: TMEM217B TMEM217

Linked Data

• gnomAD v4: 6-37212751-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37212751G>T , CM000668.2:g.37212751G>T	GRCh38
NC_000006.11:g.37180527G>T , CM000668.1:g.37180527G>T	GRCh37
NC_000006.10:g.37288505G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000497775.2:c.219C>A (TMEM217B) MANE Select	ENSP00000499172.1:p.Phe73Leu
ENST00000651039.2:c.*215C>A (TMEM217) MANE Select	ENSP00000499204.1:n.*215C>A
ENST00000336655.7:c.*246C>A (TMEM217)	ENSP00000338164.2:n.*246C>A
ENST00000356757.7:c.*215C>A (TMEM217)	ENSP00000349198.2:n.*215C>A
ENST00000478262.2:c.219C>A (TMEM217B)	ENSP00000498233.1:p.Phe73Leu
ENST00000650809.1:c.*345C>A (TMEM217)	ENSP00000498285.1:n.*345C>A
ENST00000650812.1:c.219C>A (TMEM217B)	ENSP00000498349.1:p.Phe73Leu
ENST00000650973.1:c.*355C>A (TMEM217)	ENSP00000498793.1:n.*355C>A
ENST00000651039.1:c.*215C>A (TMEM217)	ENSP00000499204.1:n.*215C>A
ENST00000651722.1:c.543C>A (TMEM217)
ENST00000652218.1:c.*220C>A (TMEM217)	ENSP00000498862.1:n.*220C>A
ENST00000652386.1:c.*215C>A (TMEM217)	ENSP00000498681.1:n.*215C>A
ENST00000652495.1:c.*140C>A (TMEM217)	ENSP00000499097.1:n.*140C>A
ENST00000336655.6:c.*246C>A (TMEM217)	ENSP00000338164.2:n.*246C>A
ENST00000356757.6:c.*215C>A (TMEM217)	ENSP00000349198.2:n.*215C>A
ENST00000478262.1:n.401C>A (TMEM217)
ENST00000497775.1:n.315C>A (TMEM217)
NM_001286401.1:c.*215C>A (TMEM217)	NP_001273330.1:n.*215C>A
NM_145316.3:c.*246C>A (TMEM217)	NP_660359.2:n.*246C>A
NR_104442.1:n.919C>A (TMEM217)
NR_104443.1:n.834C>A (TMEM217)
XM_011514368.1:c.219C>A (TMEM217)	XP_011512670.1:p.Phe73Leu
XM_011514369.1:c.219C>A (TMEM217)	XP_011512671.1:p.Phe73Leu
XM_011514370.1:c.219C>A (TMEM217)	XP_011512672.1:p.Phe73Leu
XM_011514367.2:c.*220C>A (TMEM217)	XP_011512669.1:n.*220C>A
XM_011514369.3:c.219C>A (TMEM217)	XP_011512671.1:p.Phe73Leu
XM_011514370.2:c.219C>A (TMEM217)	XP_011512672.1:p.Phe73Leu
XM_024446353.1:c.*215C>A (TMEM217)	XP_024302121.1:n.*215C>A
NM_145316.4:c.*246C>A (TMEM217)	NP_660359.2:n.*246C>A
NM_001371555.1:c.*215C>A (TMEM217)	NP_001358484.1:n.*215C>A
NM_001286401.2:c.*215C>A (TMEM217) MANE Select	NP_001273330.1:n.*215C>A
NR_104442.2:n.908C>A (TMEM217)
NR_104443.2:n.823C>A (TMEM217)
NM_001395238.1:c.*220C>A (TMEM217)	NP_001382167.1:n.*220C>A
NM_001395241.1:c.*231C>A (TMEM217)	NP_001382170.1:n.*231C>A
NM_001395242.1:c.*231C>A (TMEM217)	NP_001382171.1:n.*231C>A
NM_001395243.1:c.*220C>A (TMEM217)	NP_001382172.1:n.*220C>A
NM_001395244.1:c.*140C>A (TMEM217)	NP_001382173.1:n.*140C>A
NM_001395377.1:c.219C>A (TMEM217B)	NP_001382306.1:p.Phe73Leu
NM_001395378.1:c.219C>A (TMEM217B) MANE Select	NP_001382307.1:p.Phe73Leu
NM_001395938.1:c.219C>A (TMEM217B)	NP_001382867.1:p.Phe73Leu
NR_172517.1:n.1548C>A (TMEM217)