Canonical Allele Identifier: CA236687435
Community Standard Title: NM_012306.4(FAIM2):c.299G>A (p.Arg100Gln)
Gene: FAIM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49898003C>T , CM000674.2:g.49898003C>T GRCh38
NC_000012.11:g.50291786C>T , CM000674.1:g.50291786C>T GRCh37
NC_000012.10:g.48578053C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012306.4:c.299G>A MANE Select NP_036438.2:p.Arg100Gln
ENST00000320634.8:c.299G>A MANE Select ENSP00000321951.3:p.Arg100Gln
NM_012306.3:c.299G>A NP_036438.2:p.Arg100Gln
ENST00000320634.7:c.299G>A ENSP00000321951.3:p.Arg100Gln
ENST00000547871.1:c.161G>A ENSP00000449360.1:p.Arg54Gln
ENST00000550195.5:c.299G>A ENSP00000447715.1:p.Arg100Gln
ENST00000550635.6:c.299G>A ENSP00000449711.2:p.Arg100Gln
ENST00000550890.5:c.161G>A ENSP00000450132.1:p.Arg54Gln
ENST00000552669.5:c.173G>A ENSP00000446771.1:p.Arg58Gln
XM_005268730.2:c.173G>A XP_005268787.1:p.Arg58Gln
XM_005268730.3:c.173G>A XP_005268787.1:p.Arg58Gln