Canonical Allele Identifier: CA52413198

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 821302
• ClinVar RCV Id: RCV001015592
• dbSNP Id: rs962270831
• gnomAD v2: 2-96920739-T-C
• gnomAD v3: 2-96255001-T-C
• gnomAD v4: 2-96255001-T-C
• MyVariant Identifiers: chr2:g.96920739T>C (hg19) ; chr2:g.96255001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255001T>C , CM000664.2:g.96255001T>C	GRCh38
NC_000002.11:g.96920739T>C , CM000664.1:g.96920739T>C	GRCh37
NC_000002.10:g.96284466T>C	NCBI36
NG_027695.1:g.16013A>G , LRG_528:g.16013A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.245-4A>G MANE Select	ENSP00000258439.3:n.245-4A>G
ENST00000258439.7:c.245-4A>G	ENSP00000258439.2:n.245-4A>G
ENST00000432959.1:c.245-4A>G	ENSP00000416660.1:n.245-4A>G
ENST00000435268.1:c.-8-4A>G	ENSP00000411810.1:n.-8-4A>G
NM_001193304.2:c.245-4A>G	NP_001180233.1:n.245-4A>G
NM_017849.3:c.245-4A>G , LRG_528t1:c.245-4A>G	NP_060319.1:n.245-4A>G
XM_017004450.1:c.-674-4A>G	XP_016859939.1:n.-674-4A>G
XM_017004452.1:c.-8-4A>G	XP_016859941.1:n.-8-4A>G
NM_001193304.3:c.245-4A>G	NP_001180233.1:n.245-4A>G
NM_017849.4:c.245-4A>G MANE Select	NP_060319.1:n.245-4A>G