Canonical Allele Identifier: CA2570404512

Gene: AFG2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122924191_122924193del , CM000666.2:g.122924191_122924193del	GRCh38
NC_000004.11:g.123845346_123845348del , CM000666.1:g.123845346_123845348del	GRCh37
NC_000004.10:g.124064796_124064798del	NCBI36
NG_030404.1:g.3812_3814del
NG_051570.1:g.6122_6124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.163+886_163+888del MANE Select	ENSP00000274008.3:n.163+886_163+888del
ENST00000674886.1:n.228+886_228+888del
ENST00000675612.1:c.163+886_163+888del	ENSP00000502453.1:n.163+886_163+888del
ENST00000274008.4:c.163+886_163+888del	ENSP00000274008.3:n.163+886_163+888del
ENST00000422835.2:n.205+886_205+888del
NM_145207.2:c.163+886_163+888del	NP_660208.2:n.163+886_163+888del
XM_005262783.3:c.163+886_163+888del	XP_005262840.1:n.163+886_163+888del
XM_011531678.1:c.163+886_163+888del	XP_011529980.1:n.163+886_163+888del
XM_011531679.1:c.163+886_163+888del	XP_011529981.1:n.163+886_163+888del
NM_001317799.1:c.163+886_163+888del	NP_001304728.1:n.163+886_163+888del
NM_001345856.1:c.163+886_163+888del	NP_001332785.1:n.163+886_163+888del
XM_011531678.2:c.163+886_163+888del	XP_011529980.1:n.163+886_163+888del
XM_011531679.3:c.163+886_163+888del	XP_011529981.1:n.163+886_163+888del
XM_017007825.1:c.163+886_163+888del	XP_016863314.1:n.163+886_163+888del
XM_017007826.1:c.163+886_163+888del	XP_016863315.1:n.163+886_163+888del
XM_017007827.2:c.163+886_163+888del	XP_016863316.1:n.163+886_163+888del
XM_017007828.1:c.-57+908_-57+910del	XP_016863317.1:n.-57+908_-57+910del
XM_017007830.1:c.163+886_163+888del	XP_016863319.1:n.163+886_163+888del
XR_001741151.1:n.236+886_236+888del
NM_145207.3:c.163+886_163+888del MANE Select	NP_660208.2:n.163+886_163+888del
NM_001317799.2:c.163+886_163+888del	NP_001304728.1:n.163+886_163+888del
NM_001345856.2:c.163+886_163+888del	NP_001332785.1:n.163+886_163+888del