Canonical Allele Identifier: CA2671998314

Gene: AFG2A

Linked Data

• gnomAD v4: 4-122938317-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938319_122938320del , CM000666.2:g.122938319_122938320del	GRCh38
NC_000004.11:g.123859474_123859475del , CM000666.1:g.123859474_123859475del	GRCh37
NC_000004.10:g.124078924_124078925del	NCBI36
NG_051570.1:g.20250_20251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1458+70_1458+71del MANE Select	ENSP00000274008.3:n.1458+70_1458+71del
ENST00000674886.1:n.1520+70_1520+71del
ENST00000675612.1:c.1455+70_1455+71del	ENSP00000502453.1:n.1455+70_1455+71del
ENST00000274008.4:c.1458+70_1458+71del	ENSP00000274008.3:n.1458+70_1458+71del
ENST00000422835.2:n.1500+70_1500+71del
NM_145207.2:c.1458+70_1458+71del	NP_660208.2:n.1458+70_1458+71del
XM_005262783.3:c.1455+70_1455+71del	XP_005262840.1:n.1455+70_1455+71del
XM_011531678.1:c.1455+70_1455+71del	XP_011529980.1:n.1455+70_1455+71del
XM_011531679.1:c.1458+70_1458+71del	XP_011529981.1:n.1458+70_1458+71del
NM_001317799.1:c.1455+70_1455+71del	NP_001304728.1:n.1455+70_1455+71del
NM_001345856.1:c.1455+70_1455+71del	NP_001332785.1:n.1455+70_1455+71del
XM_011531678.2:c.1455+70_1455+71del	XP_011529980.1:n.1455+70_1455+71del
XM_011531679.3:c.1458+70_1458+71del	XP_011529981.1:n.1458+70_1458+71del
XM_017007825.1:c.1458+70_1458+71del	XP_016863314.1:n.1458+70_1458+71del
XM_017007826.1:c.1458+70_1458+71del	XP_016863315.1:n.1458+70_1458+71del
XM_017007827.2:c.1458+70_1458+71del	XP_016863316.1:n.1458+70_1458+71del
XM_017007828.1:c.1236+70_1236+71del	XP_016863317.1:n.1236+70_1236+71del
XM_017007829.1:c.1002+70_1002+71del	XP_016863318.1:n.1002+70_1002+71del
XM_017007830.1:c.1458+70_1458+71del	XP_016863319.1:n.1458+70_1458+71del
XR_001741151.1:n.1528+70_1528+71del
NM_145207.3:c.1458+70_1458+71del MANE Select	NP_660208.2:n.1458+70_1458+71del
NM_001317799.2:c.1455+70_1455+71del	NP_001304728.1:n.1455+70_1455+71del
NM_001345856.2:c.1455+70_1455+71del	NP_001332785.1:n.1455+70_1455+71del