Canonical Allele Identifier: CA1777324
Gene: TMEM127 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.96254826G>A
GRCh37 chr2:g.96920564G>A
gnomAD v2:
2:96920564 G / A
gnomAD v3:
2:96254826 G / A
gnomAD v4:
chr2-96254826-G-A
Joint Max Group AF 0.00672237 (NFE)
Genomes Max Group AF 0.00590095 (NFE)
Exomes Max Group AF 0.00674609 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254826G>A , CM000664.2:g.96254826G>A GRCh38
NC_000002.11:g.96920564G>A , CM000664.1:g.96920564G>A GRCh37
NC_000002.10:g.96284291G>A NCBI36
NG_027695.1:g.16188C>T , LRG_528:g.16188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.409+7C>T MANE Select ENSP00000258439.3:n.409+7C>T
ENST00000258439.7:c.409+7C>T ENSP00000258439.2:n.409+7C>T
ENST00000432959.1:c.409+7C>T ENSP00000416660.1:n.409+7C>T
ENST00000435268.1:c.157+7C>T ENSP00000411810.1:n.157+7C>T
NM_001193304.2:c.409+7C>T NP_001180233.1:n.409+7C>T
NM_017849.3:c.409+7C>T , LRG_528t1:c.409+7C>T NP_060319.1:n.409+7C>T
XM_017004450.1:c.-510+7C>T XP_016859939.1:n.-510+7C>T
XM_017004452.1:c.157+7C>T XP_016859941.1:n.157+7C>T
NM_001193304.3:c.409+7C>T NP_001180233.1:n.409+7C>T
NM_017849.4:c.409+7C>T MANE Select NP_060319.1:n.409+7C>T
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