Canonical Allele Identifier: CA534634902

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2005993
• ClinVar RCV Id: RCV002837574
• dbSNP Id: rs1558752000
• gnomAD v2: 2-96919865-A-G
• MyVariant Identifiers: chr2:g.96919865_96919866delinsGG (hg19) ; chr2:g.96254127_96254128delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254127A>G , CM000664.2:g.96254127A>G	GRCh38
NC_000002.11:g.96919865A>G , CM000664.1:g.96919865A>G	GRCh37
NC_000002.10:g.96283592A>G	NCBI36
NG_027695.1:g.16887T>C , LRG_528:g.16887T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.410-12T>C MANE Select	ENSP00000258439.3:n.410-12T>C
ENST00000258439.7:c.410-12T>C	ENSP00000258439.2:n.410-12T>C
ENST00000432959.1:c.410-12T>C	ENSP00000416660.1:n.410-12T>C
ENST00000435268.1:c.158-12T>C	ENSP00000411810.1:n.158-12T>C
NM_001193304.2:c.410-12T>C	NP_001180233.1:n.410-12T>C
NM_017849.3:c.410-12T>C , LRG_528t1:c.410-12T>C	NP_060319.1:n.410-12T>C
XM_017004450.1:c.-509-12T>C	XP_016859939.1:n.-509-12T>C
XM_017004452.1:c.158-12T>C	XP_016859941.1:n.158-12T>C
NM_001193304.3:c.410-12T>C	NP_001180233.1:n.410-12T>C
NM_017849.4:c.410-12T>C MANE Select	NP_060319.1:n.410-12T>C