Canonical Allele Identifier: CA52409746

Gene: TMEM127

Linked Data

• dbSNP Id: rs1005685079
• gnomAD v2: 2-96916598-G-C
• gnomAD v3: 2-96250860-G-C
• gnomAD v4: 2-96250860-G-C
• MyVariant Identifiers: chr2:g.96916598G>C (hg19) ; chr2:g.96250860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250860G>C , CM000664.2:g.96250860G>C	GRCh38
NC_000002.11:g.96916598G>C , CM000664.1:g.96916598G>C	GRCh37
NC_000002.10:g.96280325G>C	NCBI36
NG_027695.1:g.20154C>G , LRG_528:g.20154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2948C>G MANE Select	ENSP00000258439.3:n.*2948C>G
ENST00000258439.7:c.*2948C>G	ENSP00000258439.2:n.*2948C>G
NM_001193304.2:c.*2948C>G	NP_001180233.1:n.*2948C>G
NM_017849.3:c.*2948C>G , LRG_528t1:c.*2948C>G	NP_060319.1:n.*2948C>G
XM_017004450.1:c.*2249C>G	XP_016859939.1:n.*2249C>G
XM_017004452.1:c.*2948C>G	XP_016859941.1:n.*2948C>G
NM_001193304.3:c.*2948C>G	NP_001180233.1:n.*2948C>G
NM_017849.4:c.*2948C>G MANE Select	NP_060319.1:n.*2948C>G