Canonical Allele Identifier: CA786421780

Gene: AFG2A

Linked Data

• dbSNP Id: rs1397637216
• MyVariant Identifiers: chr4:g.123859565_123859567del (hg19) ; chr4:g.122938410_122938412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938413_122938415del , CM000666.2:g.122938413_122938415del	GRCh38
NC_000004.11:g.123859568_123859570del , CM000666.1:g.123859568_123859570del	GRCh37
NC_000004.10:g.124079018_124079020del	NCBI36
NG_051570.1:g.20344_20346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1458+164_1458+166del MANE Select	ENSP00000274008.3:n.1458+164_1458+166del
ENST00000674886.1:n.1520+164_1520+166del
ENST00000675612.1:c.1455+164_1455+166del	ENSP00000502453.1:n.1455+164_1455+166del
ENST00000274008.4:c.1458+164_1458+166del	ENSP00000274008.3:n.1458+164_1458+166del
ENST00000422835.2:n.1500+164_1500+166del
NM_145207.2:c.1458+164_1458+166del	NP_660208.2:n.1458+164_1458+166del
XM_005262783.3:c.1455+164_1455+166del	XP_005262840.1:n.1455+164_1455+166del
XM_011531678.1:c.1455+164_1455+166del	XP_011529980.1:n.1455+164_1455+166del
XM_011531679.1:c.1458+164_1458+166del	XP_011529981.1:n.1458+164_1458+166del
NM_001317799.1:c.1455+164_1455+166del	NP_001304728.1:n.1455+164_1455+166del
NM_001345856.1:c.1455+164_1455+166del	NP_001332785.1:n.1455+164_1455+166del
XM_011531678.2:c.1455+164_1455+166del	XP_011529980.1:n.1455+164_1455+166del
XM_011531679.3:c.1458+164_1458+166del	XP_011529981.1:n.1458+164_1458+166del
XM_017007825.1:c.1458+164_1458+166del	XP_016863314.1:n.1458+164_1458+166del
XM_017007826.1:c.1458+164_1458+166del	XP_016863315.1:n.1458+164_1458+166del
XM_017007827.2:c.1458+164_1458+166del	XP_016863316.1:n.1458+164_1458+166del
XM_017007828.1:c.1236+164_1236+166del	XP_016863317.1:n.1236+164_1236+166del
XM_017007829.1:c.1002+164_1002+166del	XP_016863318.1:n.1002+164_1002+166del
XM_017007830.1:c.1458+164_1458+166del	XP_016863319.1:n.1458+164_1458+166del
XR_001741151.1:n.1528+164_1528+166del
NM_145207.3:c.1458+164_1458+166del MANE Select	NP_660208.2:n.1458+164_1458+166del
NM_001317799.2:c.1455+164_1455+166del	NP_001304728.1:n.1455+164_1455+166del
NM_001345856.2:c.1455+164_1455+166del	NP_001332785.1:n.1455+164_1455+166del