Canonical Allele Identifier: CA358106012

Gene: AFG2A

Linked Data

• gnomAD v4: 4-122938146-T-C
• MyVariant Identifiers: chr4:g.123859301T>C (hg19) ; chr4:g.122938146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938146T>C , CM000666.2:g.122938146T>C	GRCh38
NC_000004.11:g.123859301T>C , CM000666.1:g.123859301T>C	GRCh37
NC_000004.10:g.124078751T>C	NCBI36
NG_051570.1:g.20077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1355T>C MANE Select	ENSP00000274008.3:p.Ile452Thr
ENST00000674886.1:n.1417T>C
ENST00000675612.1:c.1352T>C	ENSP00000502453.1:p.Ile451Thr
ENST00000274008.4:c.1355T>C	ENSP00000274008.3:p.Ile452Thr
ENST00000422835.2:n.1397T>C
NM_145207.2:c.1355T>C	NP_660208.2:p.Ile452Thr
XM_005262783.3:c.1352T>C	XP_005262840.1:p.Ile451Thr
XM_011531678.1:c.1352T>C	XP_011529980.1:p.Ile451Thr
XM_011531679.1:c.1355T>C	XP_011529981.1:p.Ile452Thr
NM_001317799.1:c.1352T>C	NP_001304728.1:p.Ile451Thr
NM_001345856.1:c.1352T>C	NP_001332785.1:p.Ile451Thr
XM_011531678.2:c.1352T>C	XP_011529980.1:p.Ile451Thr
XM_011531679.3:c.1355T>C	XP_011529981.1:p.Ile452Thr
XM_017007825.1:c.1355T>C	XP_016863314.1:p.Ile452Thr
XM_017007826.1:c.1355T>C	XP_016863315.1:p.Ile452Thr
XM_017007827.2:c.1355T>C	XP_016863316.1:p.Ile452Thr
XM_017007828.1:c.1133T>C	XP_016863317.1:p.Ile378Thr
XM_017007829.1:c.899T>C	XP_016863318.1:p.Ile300Thr
XM_017007830.1:c.1355T>C	XP_016863319.1:p.Ile452Thr
XR_001741151.1:n.1425T>C
NM_145207.3:c.1355T>C MANE Select	NP_660208.2:p.Ile452Thr
NM_001317799.2:c.1352T>C	NP_001304728.1:p.Ile451Thr
NM_001345856.2:c.1352T>C	NP_001332785.1:p.Ile451Thr