Canonical Allele Identifier: CA358106361

Gene: AFG2A

Linked Data

• dbSNP Id: rs1578535649
• MyVariant Identifiers: chr4:g.123859380A>T (hg19) ; chr4:g.122938225A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938225A>T , CM000666.2:g.122938225A>T	GRCh38
NC_000004.11:g.123859380A>T , CM000666.1:g.123859380A>T	GRCh37
NC_000004.10:g.124078830A>T	NCBI36
NG_051570.1:g.20156A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1434A>T MANE Select	ENSP00000274008.3:p.Leu478Phe
ENST00000674886.1:n.1496A>T
ENST00000675612.1:c.1431A>T	ENSP00000502453.1:p.Leu477Phe
ENST00000274008.4:c.1434A>T	ENSP00000274008.3:p.Leu478Phe
ENST00000422835.2:n.1476A>T
NM_145207.2:c.1434A>T	NP_660208.2:p.Leu478Phe
XM_005262783.3:c.1431A>T	XP_005262840.1:p.Leu477Phe
XM_011531678.1:c.1431A>T	XP_011529980.1:p.Leu477Phe
XM_011531679.1:c.1434A>T	XP_011529981.1:p.Leu478Phe
NM_001317799.1:c.1431A>T	NP_001304728.1:p.Leu477Phe
NM_001345856.1:c.1431A>T	NP_001332785.1:p.Leu477Phe
XM_011531678.2:c.1431A>T	XP_011529980.1:p.Leu477Phe
XM_011531679.3:c.1434A>T	XP_011529981.1:p.Leu478Phe
XM_017007825.1:c.1434A>T	XP_016863314.1:p.Leu478Phe
XM_017007826.1:c.1434A>T	XP_016863315.1:p.Leu478Phe
XM_017007827.2:c.1434A>T	XP_016863316.1:p.Leu478Phe
XM_017007828.1:c.1212A>T	XP_016863317.1:p.Leu404Phe
XM_017007829.1:c.978A>T	XP_016863318.1:p.Leu326Phe
XM_017007830.1:c.1434A>T	XP_016863319.1:p.Leu478Phe
XR_001741151.1:n.1504A>T
NM_145207.3:c.1434A>T MANE Select	NP_660208.2:p.Leu478Phe
NM_001317799.2:c.1431A>T	NP_001304728.1:p.Leu477Phe
NM_001345856.2:c.1431A>T	NP_001332785.1:p.Leu477Phe