Canonical Allele Identifier: CA248377

Gene: AFG2A

Linked Data

• ClinVar Variation Id: 207827
• ClinVar RCV Id: RCV000190121 ; RCV001383408
• dbSNP Id: rs139834687
• ExAC: 4:123868606 C / A
• gnomAD v2: 4-123868606-C-A
• gnomAD v3: 4-122947451-C-A
• gnomAD v4: 4-122947451-C-A
• MyVariant Identifiers: chr4:g.123868606C>A (hg19) ; chr4:g.122947451C>A (hg38)
• PubMed: PMID:26299366

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947451C>A , CM000666.2:g.122947451C>A	GRCh38
NC_000004.11:g.123868606C>A , CM000666.1:g.123868606C>A	GRCh37
NC_000004.10:g.124088056C>A	NCBI36
NG_051570.1:g.29382C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274008.5:c.1677C>A MANE Select	ENSP00000274008.3:p.Tyr559Ter
ENST00000674886.1:n.1739C>A
ENST00000675612.1:c.1674C>A	ENSP00000502453.1:p.Tyr558Ter
ENST00000274008.4:c.1677C>A	ENSP00000274008.3:p.Tyr559Ter
ENST00000422835.2:n.1719C>A
NM_145207.2:c.1677C>A	NP_660208.2:p.Tyr559Ter
XM_005262783.3:c.1674C>A	XP_005262840.1:p.Tyr558Ter
XM_011531678.1:c.1674C>A	XP_011529980.1:p.Tyr558Ter
XM_011531679.1:c.1677C>A	XP_011529981.1:p.Tyr559Ter
NM_001317799.1:c.1674C>A	NP_001304728.1:p.Tyr558Ter
NM_001345856.1:c.1674C>A	NP_001332785.1:p.Tyr558Ter
XM_011531678.2:c.1674C>A	XP_011529980.1:p.Tyr558Ter
XM_011531679.3:c.1677C>A	XP_011529981.1:p.Tyr559Ter
XM_017007825.1:c.1677C>A	XP_016863314.1:p.Tyr559Ter
XM_017007826.1:c.1677C>A	XP_016863315.1:p.Tyr559Ter
XM_017007827.2:c.1677C>A	XP_016863316.1:p.Tyr559Ter
XM_017007828.1:c.1455C>A	XP_016863317.1:p.Tyr485Ter
XM_017007829.1:c.1221C>A	XP_016863318.1:p.Tyr407Ter
XM_017007830.1:c.1677C>A	XP_016863319.1:p.Tyr559Ter
XR_001741151.1:n.1747C>A
NM_145207.3:c.1677C>A MANE Select	NP_660208.2:p.Tyr559Ter
NM_001317799.2:c.1674C>A	NP_001304728.1:p.Tyr558Ter
NM_001345856.2:c.1674C>A	NP_001332785.1:p.Tyr558Ter