Canonical Allele Identifier: CA13646944
Gene: FAIM2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49869365G>A
GRCh37 chr12:g.50263148G>A
gnomAD v2:
12:50263148 G / A
gnomAD v3:
12:49869365 G / A
gnomAD v4:
chr12-49869365-G-A
Joint Max Group AF 0.38954513 (NFE)
Genomes Max Group AF 0.3895885 (NFE)
Exomes Max Group AF 0.31074495 (NFE)
dbSNP:
7132908
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49869365G>A , CM000674.2:g.49869365G>A GRCh38
NC_000012.11:g.50263148G>A , CM000674.1:g.50263148G>A GRCh37
NC_000012.10:g.48549415G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000320634.8:c.*1139C>T MANE Select ENSP00000321951.3:n.*1139C>T
ENST00000320634.7:c.*1139C>T ENSP00000321951.3:n.*1139C>T
NM_012306.3:c.*1139C>T NP_036438.2:n.*1139C>T
XM_005268730.2:c.*1139C>T XP_005268787.1:n.*1139C>T
XM_005268730.3:c.*1139C>T XP_005268787.1:n.*1139C>T
NM_012306.4:c.*1139C>T MANE Select NP_036438.2:n.*1139C>T
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