Canonical Allele Identifier: CA380684761

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61393334T>G , CM000673.2:g.61393334T>G	GRCh38
NC_000011.9:g.61160806T>G , CM000673.1:g.61160806T>G	GRCh37
NC_000011.8:g.60917382T>G	NCBI36
NG_032976.1:g.5975T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001173990.3:c.136+2T>G MANE Select	NP_001167461.1:n.136+2T>G
ENST00000515837.7:c.136+2T>G MANE Select	ENSP00000440638.1:n.136+2T>G
NM_001173990.2:c.136+2T>G	NP_001167461.1:n.136+2T>G
NM_001173991.2:c.136+2T>G	NP_001167462.1:n.136+2T>G
NM_001173991.3:c.136+2T>G	NP_001167462.1:n.136+2T>G
NM_001330285.1:c.-48+2T>G	NP_001317214.1:n.-48+2T>G
NM_001330285.2:c.-48+2T>G	NP_001317214.1:n.-48+2T>G
NM_016499.5:c.-48+2T>G	NP_057583.2:n.-48+2T>G
NM_016499.6:c.-48+2T>G	NP_057583.2:n.-48+2T>G
ENST00000334888.10:c.136+2T>G	ENSP00000334844.5:n.136+2T>G
ENST00000334888.9:c.136+2T>G	ENSP00000334844.5:n.136+2T>G
ENST00000398979.7:c.-48+2T>G	ENSP00000381950.3:n.-48+2T>G
ENST00000515837.6:c.136+2T>G	ENSP00000440638.1:n.136+2T>G
ENST00000541473.1:n.150+2T>G
ENST00000544795.5:n.152+2T>G
ENST00000544795.6:n.413+2T>G
ENST00000684926.1:n.152+2T>G
ENST00000688959.1:c.-124+2T>G	ENSP00000509213.1:n.-124+2T>G
ENST00000690736.1:c.136+2T>G	ENSP00000508542.1:n.136+2T>G
XM_005274039.3:c.-48+2T>G	XP_005274096.1:n.-48+2T>G
XM_005274039.4:c.-48+2T>G	XP_005274096.1:n.-48+2T>G