Canonical Allele Identifier: CA3070494

Gene: AFG2A

Linked Data

• dbSNP Id: rs747335668
• ExAC: 4:123868536 TG / T
• gnomAD v2: 4-123868536-TG-T
• gnomAD v4: 4-122947381-TG-T
• MyVariant Identifiers: chr4:g.123868537del (hg19) ; chr4:g.122947382del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947382del , CM000666.2:g.122947382del	GRCh38
NC_000004.11:g.123868537del , CM000666.1:g.123868537del	GRCh37
NC_000004.10:g.124087987del	NCBI36
NG_051570.1:g.29313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1608del MANE Select	ENSP00000274008.3:p.Leu537PhefsTer28
ENST00000674886.1:n.1670del
ENST00000675612.1:c.1605del	ENSP00000502453.1:p.Leu536PhefsTer28
ENST00000274008.4:c.1608del	ENSP00000274008.3:p.Leu537PhefsTer28
ENST00000422835.2:n.1650del
NM_145207.2:c.1608del	NP_660208.2:p.Leu537PhefsTer28
XM_005262783.3:c.1605del	XP_005262840.1:p.Leu536PhefsTer28
XM_011531678.1:c.1605del	XP_011529980.1:p.Leu536PhefsTer28
XM_011531679.1:c.1608del	XP_011529981.1:p.Leu537PhefsTer28
NM_001317799.1:c.1605del	NP_001304728.1:p.Leu536PhefsTer28
NM_001345856.1:c.1605del	NP_001332785.1:p.Leu536PhefsTer28
XM_011531678.2:c.1605del	XP_011529980.1:p.Leu536PhefsTer28
XM_011531679.3:c.1608del	XP_011529981.1:p.Leu537PhefsTer28
XM_017007825.1:c.1608del	XP_016863314.1:p.Leu537PhefsTer28
XM_017007826.1:c.1608del	XP_016863315.1:p.Leu537PhefsTer28
XM_017007827.2:c.1608del	XP_016863316.1:p.Leu537PhefsTer28
XM_017007828.1:c.1386del	XP_016863317.1:p.Leu463PhefsTer28
XM_017007829.1:c.1152del	XP_016863318.1:p.Leu385PhefsTer28
XM_017007830.1:c.1608del	XP_016863319.1:p.Leu537PhefsTer28
XR_001741151.1:n.1678del
NM_145207.3:c.1608del MANE Select	NP_660208.2:p.Leu537PhefsTer28
NM_001317799.2:c.1605del	NP_001304728.1:p.Leu536PhefsTer28
NM_001345856.2:c.1605del	NP_001332785.1:p.Leu536PhefsTer28