Canonical Allele Identifier: CA52410646

Gene: TMEM127

Linked Data

• dbSNP Id: rs1004183233
• gnomAD v3: 2-96251767-AAG-A
• gnomAD v4: 2-96251767-AAG-A
• MyVariant Identifiers: chr2:g.96917506_96917507del (hg19) ; chr2:g.96251768_96251769del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251771_96251772del , CM000664.2:g.96251771_96251772del	GRCh38
NC_000002.11:g.96917509_96917510del , CM000664.1:g.96917509_96917510del	GRCh37
NC_000002.10:g.96281236_96281237del	NCBI36
NG_027695.1:g.19245_19246del , LRG_528:g.19245_19246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2039_*2040del MANE Select	ENSP00000258439.3:n.*2039_*2040del
ENST00000258439.7:c.*2039_*2040del	ENSP00000258439.2:n.*2039_*2040del
ENST00000432959.1:c.*2039_*2040del	ENSP00000416660.1:n.*2039_*2040del
NM_001193304.2:c.*2039_*2040del	NP_001180233.1:n.*2039_*2040del
NM_017849.3:c.*2039_*2040del , LRG_528t1:c.*2039_*2040del	NP_060319.1:n.*2039_*2040del
XM_017004450.1:c.*1340_*1341del	XP_016859939.1:n.*1340_*1341del
XM_017004452.1:c.*2039_*2040del	XP_016859941.1:n.*2039_*2040del
NM_001193304.3:c.*2039_*2040del	NP_001180233.1:n.*2039_*2040del
NM_017849.4:c.*2039_*2040del MANE Select	NP_060319.1:n.*2039_*2040del