Canonical Allele Identifier: CA2672000585

Gene: AFG2A

Linked Data

• gnomAD v4: 4-123313827-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.123313827T>C , CM000666.2:g.123313827T>C	GRCh38
NC_000004.11:g.124234982T>C , CM000666.1:g.124234982T>C	GRCh37
NC_000004.10:g.124454432T>C	NCBI36
NG_051570.1:g.395758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.2506-61T>C MANE Select	ENSP00000274008.3:n.2506-61T>C
ENST00000675612.1:c.2575-61T>C	ENSP00000502453.1:n.2575-61T>C
ENST00000274008.4:c.2506-61T>C	ENSP00000274008.3:n.2506-61T>C
NM_145207.2:c.2506-61T>C	NP_660208.2:n.2506-61T>C
XM_005262783.3:c.2503-61T>C	XP_005262840.1:n.2503-61T>C
XM_011531678.1:c.2575-61T>C	XP_011529980.1:n.2575-61T>C
NM_001345856.1:c.2503-61T>C	NP_001332785.1:n.2503-61T>C
XM_011531678.2:c.2575-61T>C	XP_011529980.1:n.2575-61T>C
XM_017007825.1:c.2578-61T>C	XP_016863314.1:n.2578-61T>C
XM_017007828.1:c.2284-61T>C	XP_016863317.1:n.2284-61T>C
XM_017007829.1:c.2122-61T>C	XP_016863318.1:n.2122-61T>C
XR_001741151.1:n.2664-61T>C
NM_145207.3:c.2506-61T>C MANE Select	NP_660208.2:n.2506-61T>C
NM_001345856.2:c.2503-61T>C	NP_001332785.1:n.2503-61T>C