Canonical Allele Identifier: CA1777307

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 801731
• ClinVar RCV Id: RCV000986788 ; RCV001214275
• dbSNP Id: rs765971817
• ExAC: 2:96919859 A / C
• gnomAD v2: 2-96919859-A-C
• gnomAD v4: 2-96254121-A-C
• MyVariant Identifiers: chr2:g.96919859A>C (hg19) ; chr2:g.96254121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254121A>C , CM000664.2:g.96254121A>C	GRCh38
NC_000002.11:g.96919859A>C , CM000664.1:g.96919859A>C	GRCh37
NC_000002.10:g.96283586A>C	NCBI36
NG_027695.1:g.16893T>G , LRG_528:g.16893T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.410-6T>G MANE Select	ENSP00000258439.3:n.410-6T>G
ENST00000258439.7:c.410-6T>G	ENSP00000258439.2:n.410-6T>G
ENST00000432959.1:c.410-6T>G	ENSP00000416660.1:n.410-6T>G
ENST00000435268.1:c.158-6T>G	ENSP00000411810.1:n.158-6T>G
NM_001193304.2:c.410-6T>G	NP_001180233.1:n.410-6T>G
NM_017849.3:c.410-6T>G , LRG_528t1:c.410-6T>G	NP_060319.1:n.410-6T>G
XM_017004450.1:c.-509-6T>G	XP_016859939.1:n.-509-6T>G
XM_017004452.1:c.158-6T>G	XP_016859941.1:n.158-6T>G
NM_001193304.3:c.410-6T>G	NP_001180233.1:n.410-6T>G
NM_017849.4:c.410-6T>G MANE Select	NP_060319.1:n.410-6T>G