Canonical Allele Identifier: CA554527091

Gene: AFG2A

Linked Data

• dbSNP Id: rs1351504715
• gnomAD v2: 4-124234997-G-A
• gnomAD v3: 4-123313842-G-A
• gnomAD v4: 4-123313842-G-A
• MyVariant Identifiers: chr4:g.124234997G>A (hg19) ; chr4:g.123313842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.123313842G>A , CM000666.2:g.123313842G>A	GRCh38
NC_000004.11:g.124234997G>A , CM000666.1:g.124234997G>A	GRCh37
NC_000004.10:g.124454447G>A	NCBI36
NG_051570.1:g.395773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.2506-46G>A MANE Select	ENSP00000274008.3:n.2506-46G>A
ENST00000675612.1:c.2575-46G>A	ENSP00000502453.1:n.2575-46G>A
ENST00000274008.4:c.2506-46G>A	ENSP00000274008.3:n.2506-46G>A
NM_145207.2:c.2506-46G>A	NP_660208.2:n.2506-46G>A
XM_005262783.3:c.2503-46G>A	XP_005262840.1:n.2503-46G>A
XM_011531678.1:c.2575-46G>A	XP_011529980.1:n.2575-46G>A
NM_001345856.1:c.2503-46G>A	NP_001332785.1:n.2503-46G>A
XM_011531678.2:c.2575-46G>A	XP_011529980.1:n.2575-46G>A
XM_017007825.1:c.2578-46G>A	XP_016863314.1:n.2578-46G>A
XM_017007828.1:c.2284-46G>A	XP_016863317.1:n.2284-46G>A
XM_017007829.1:c.2122-46G>A	XP_016863318.1:n.2122-46G>A
XR_001741151.1:n.2664-46G>A
NM_145207.3:c.2506-46G>A MANE Select	NP_660208.2:n.2506-46G>A
NM_001345856.2:c.2503-46G>A	NP_001332785.1:n.2503-46G>A