Canonical Allele Identifier: CA52409581

Gene: TMEM127

Linked Data

• dbSNP Id: rs915338061
• gnomAD v2: 2-96916425-G-A
• gnomAD v3: 2-96250687-G-A
• gnomAD v4: 2-96250687-G-A
• MyVariant Identifiers: chr2:g.96916425G>A (hg19) ; chr2:g.96250687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250687G>A , CM000664.2:g.96250687G>A	GRCh38
NC_000002.11:g.96916425G>A , CM000664.1:g.96916425G>A	GRCh37
NC_000002.10:g.96280152G>A	NCBI36
NG_027695.1:g.20327C>T , LRG_528:g.20327C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*3121C>T MANE Select	ENSP00000258439.3:n.*3121C>T
ENST00000258439.7:c.*3121C>T	ENSP00000258439.2:n.*3121C>T
NM_001193304.2:c.*3121C>T	NP_001180233.1:n.*3121C>T
NM_017849.3:c.*3121C>T , LRG_528t1:c.*3121C>T	NP_060319.1:n.*3121C>T
XM_017004450.1:c.*2422C>T	XP_016859939.1:n.*2422C>T
XM_017004452.1:c.*3121C>T	XP_016859941.1:n.*3121C>T
NM_001193304.3:c.*3121C>T	NP_001180233.1:n.*3121C>T
NM_017849.4:c.*3121C>T MANE Select	NP_060319.1:n.*3121C>T