Canonical Allele Identifier: CA2672000581

Gene: AFG2A

Linked Data

• gnomAD v4: 4-123313816-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.123313816G>T , CM000666.2:g.123313816G>T	GRCh38
NC_000004.11:g.124234971G>T , CM000666.1:g.124234971G>T	GRCh37
NC_000004.10:g.124454421G>T	NCBI36
NG_051570.1:g.395747G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.2506-72G>T MANE Select	ENSP00000274008.3:n.2506-72G>T
ENST00000675612.1:c.2575-72G>T	ENSP00000502453.1:n.2575-72G>T
ENST00000274008.4:c.2506-72G>T	ENSP00000274008.3:n.2506-72G>T
NM_145207.2:c.2506-72G>T	NP_660208.2:n.2506-72G>T
XM_005262783.3:c.2503-72G>T	XP_005262840.1:n.2503-72G>T
XM_011531678.1:c.2575-72G>T	XP_011529980.1:n.2575-72G>T
NM_001345856.1:c.2503-72G>T	NP_001332785.1:n.2503-72G>T
XM_011531678.2:c.2575-72G>T	XP_011529980.1:n.2575-72G>T
XM_017007825.1:c.2578-72G>T	XP_016863314.1:n.2578-72G>T
XM_017007828.1:c.2284-72G>T	XP_016863317.1:n.2284-72G>T
XM_017007829.1:c.2122-72G>T	XP_016863318.1:n.2122-72G>T
XR_001741151.1:n.2664-72G>T
NM_145207.3:c.2506-72G>T MANE Select	NP_660208.2:n.2506-72G>T
NM_001345856.2:c.2503-72G>T	NP_001332785.1:n.2503-72G>T