Canonical Allele Identifier: CA776244676
Gene: AFG3L2 HGNC NCBI

Linked Data

dbSNP Id: rs1294975553

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12351061_12351064dup , CM000680.2:g.12351061_12351064dup GRCh38
NC_000018.9:g.12351060_12351063dup , CM000680.1:g.12351060_12351063dup GRCh37
NC_000018.8:g.12341060_12341063dup NCBI36
NG_023361.1:g.31213_31216dup , LRG_666:g.31213_31216dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1148+21_*1148+24dup ENSP00000508998.1:n.*1148+21_*1148+24dup
ENST00000688199.1:c.1414+21_1414+24dup ENSP00000510237.1:n.1414+21_1414+24dup
ENST00000691179.1:c.1477+21_1477+24dup ENSP00000509010.1:n.1477+21_1477+24dup
ENST00000691970.1:c.*929+21_*929+24dup ENSP00000508440.1:n.*929+21_*929+24dup
ENST00000692497.1:c.1552+21_1552+24dup ENSP00000509870.1:n.1552+21_1552+24dup
ENST00000692988.1:n.1370+21_1370+24dup
ENST00000269143.8:c.1552+21_1552+24dup MANE Select ENSP00000269143.2:n.1552+21_1552+24dup
ENST00000269143.7:c.1552+21_1552+24dup ENSP00000269143.2:n.1552+21_1552+24dup
NM_006796.2:c.1552+21_1552+24dup , LRG_666t1:c.1552+21_1552+24dup NP_006787.2:n.1552+21_1552+24dup
XM_011525601.1:c.1552+21_1552+24dup XP_011523903.1:n.1552+21_1552+24dup
XM_011525601.3:c.1552+21_1552+24dup XP_011523903.1:n.1552+21_1552+24dup
NM_006796.3:c.1552+21_1552+24dup MANE Select NP_006787.2:n.1552+21_1552+24dup