Canonical Allele Identifier: CA104812675

Gene: AFG2A

Linked Data

• dbSNP Id: rs370117421
• gnomAD v2: 4-123855215-T-A
• gnomAD v3: 4-122934060-T-A
• gnomAD v4: 4-122934060-T-A
• MyVariant Identifiers: chr4:g.123855215T>A (hg19) ; chr4:g.122934060T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122934060T>A , CM000666.2:g.122934060T>A	GRCh38
NC_000004.11:g.123855215T>A , CM000666.1:g.123855215T>A	GRCh37
NC_000004.10:g.124074665T>A	NCBI36
NG_051570.1:g.15991T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274008.5:c.506-37T>A MANE Select	ENSP00000274008.3:n.506-37T>A
ENST00000674886.1:n.568-37T>A
ENST00000675392.1:n.80-37T>A
ENST00000675612.1:c.503-37T>A	ENSP00000502453.1:n.503-37T>A
ENST00000274008.4:c.506-37T>A	ENSP00000274008.3:n.506-37T>A
ENST00000422835.2:n.548-37T>A
NM_145207.2:c.506-37T>A	NP_660208.2:n.506-37T>A
XM_005262783.3:c.503-37T>A	XP_005262840.1:n.503-37T>A
XM_011531678.1:c.503-37T>A	XP_011529980.1:n.503-37T>A
XM_011531679.1:c.506-37T>A	XP_011529981.1:n.506-37T>A
NM_001317799.1:c.503-37T>A	NP_001304728.1:n.503-37T>A
NM_001345856.1:c.503-37T>A	NP_001332785.1:n.503-37T>A
XM_011531678.2:c.503-37T>A	XP_011529980.1:n.503-37T>A
XM_011531679.3:c.506-37T>A	XP_011529981.1:n.506-37T>A
XM_017007825.1:c.506-37T>A	XP_016863314.1:n.506-37T>A
XM_017007826.1:c.506-37T>A	XP_016863315.1:n.506-37T>A
XM_017007827.2:c.506-37T>A	XP_016863316.1:n.506-37T>A
XM_017007828.1:c.284-37T>A	XP_016863317.1:n.284-37T>A
XM_017007829.1:c.50-37T>A	XP_016863318.1:n.50-37T>A
XM_017007830.1:c.506-37T>A	XP_016863319.1:n.506-37T>A
XR_001741151.1:n.576-37T>A
NM_145207.3:c.506-37T>A MANE Select	NP_660208.2:n.506-37T>A
NM_001317799.2:c.503-37T>A	NP_001304728.1:n.503-37T>A
NM_001345856.2:c.503-37T>A	NP_001332785.1:n.503-37T>A