Canonical Allele Identifier: CA2285206576
Community Standard Title: NM_006796.3(AFG3L2):c.1295A= (p.Asn432=)
Gene: AFG3L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12353028T= , CM000680.2:g.12353028T= GRCh38
NC_000018.9:g.12353027T= , CM000680.1:g.12353027T= GRCh37
NC_000018.8:g.12343027T= NCBI36
NG_023361.1:g.29249A= , LRG_666:g.29249A=

Transcript Alleles

HGVS Amino-acid Change
NM_006796.3:c.1295A= MANE Select NP_006787.2:p.Asn432=
ENST00000269143.8:c.1295A= MANE Select ENSP00000269143.2:p.Asn432=
NM_006796.2:c.1295A= , LRG_666t1:c.1295A= NP_006787.2:p.Asn432=
ENST00000269143.7:c.1295A= ENSP00000269143.2:p.Asn432=
ENST00000687337.1:c.*891A= ENSP00000508998.1:n.*891A=
ENST00000688199.1:c.1157A= ENSP00000510237.1:p.Asn386=
ENST00000691179.1:c.1220A= ENSP00000509010.1:p.Asn407=
ENST00000691970.1:c.*672A= ENSP00000508440.1:n.*672A=
ENST00000692497.1:c.1295A= ENSP00000509870.1:p.Asn432=
ENST00000692988.1:n.1113A=
XM_011525601.1:c.1295A= XP_011523903.1:p.Asn432=
XM_011525601.3:c.1295A= XP_011523903.1:p.Asn432=