Canonical Allele Identifier: CA786421821

Gene: AFG2A

Linked Data

• dbSNP Id: rs1217873562
• MyVariant Identifiers: chr4:g.123859611_123859612insT (hg19) ; chr4:g.122938456_122938457insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938462dup , CM000666.2:g.122938462dup	GRCh38
NC_000004.11:g.123859617dup , CM000666.1:g.123859617dup	GRCh37
NC_000004.10:g.124079067dup	NCBI36
NG_051570.1:g.20393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1458+213dup MANE Select	ENSP00000274008.3:n.1458+213dup
ENST00000674886.1:n.1520+213dup
ENST00000675612.1:c.1455+213dup	ENSP00000502453.1:n.1455+213dup
ENST00000274008.4:c.1458+213dup	ENSP00000274008.3:n.1458+213dup
ENST00000422835.2:n.1500+213dup
NM_145207.2:c.1458+213dup	NP_660208.2:n.1458+213dup
XM_005262783.3:c.1455+213dup	XP_005262840.1:n.1455+213dup
XM_011531678.1:c.1455+213dup	XP_011529980.1:n.1455+213dup
XM_011531679.1:c.1458+213dup	XP_011529981.1:n.1458+213dup
NM_001317799.1:c.1455+213dup	NP_001304728.1:n.1455+213dup
NM_001345856.1:c.1455+213dup	NP_001332785.1:n.1455+213dup
XM_011531678.2:c.1455+213dup	XP_011529980.1:n.1455+213dup
XM_011531679.3:c.1458+213dup	XP_011529981.1:n.1458+213dup
XM_017007825.1:c.1458+213dup	XP_016863314.1:n.1458+213dup
XM_017007826.1:c.1458+213dup	XP_016863315.1:n.1458+213dup
XM_017007827.2:c.1458+213dup	XP_016863316.1:n.1458+213dup
XM_017007828.1:c.1236+213dup	XP_016863317.1:n.1236+213dup
XM_017007829.1:c.1002+213dup	XP_016863318.1:n.1002+213dup
XM_017007830.1:c.1458+213dup	XP_016863319.1:n.1458+213dup
XR_001741151.1:n.1528+213dup
NM_145207.3:c.1458+213dup MANE Select	NP_660208.2:n.1458+213dup
NM_001317799.2:c.1455+213dup	NP_001304728.1:n.1455+213dup
NM_001345856.2:c.1455+213dup	NP_001332785.1:n.1455+213dup