Canonical Allele Identifier: CA441362329

Gene: AFG2A

Linked Data

• MyVariant Identifiers: chr4:g.123855307G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122934152G>T , CM000666.2:g.122934152G>T	GRCh38
NC_000004.11:g.123855307G>T , CM000666.1:g.123855307G>T	GRCh37
NC_000004.10:g.124074757G>T	NCBI36
NG_051570.1:g.16083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.561G>T MANE Select	ENSP00000274008.3:p.Pro187=
ENST00000674886.1:n.623G>T
ENST00000675392.1:n.135G>T
ENST00000675612.1:c.558G>T	ENSP00000502453.1:p.Pro186=
ENST00000274008.4:c.561G>T	ENSP00000274008.3:p.Pro187=
ENST00000422835.2:n.603G>T
NM_145207.2:c.561G>T	NP_660208.2:p.Pro187=
XM_005262783.3:c.558G>T	XP_005262840.1:p.Pro186=
XM_011531678.1:c.558G>T	XP_011529980.1:p.Pro186=
XM_011531679.1:c.561G>T	XP_011529981.1:p.Pro187=
NM_001317799.1:c.558G>T	NP_001304728.1:p.Pro186=
NM_001345856.1:c.558G>T	NP_001332785.1:p.Pro186=
XM_011531678.2:c.558G>T	XP_011529980.1:p.Pro186=
XM_011531679.3:c.561G>T	XP_011529981.1:p.Pro187=
XM_017007825.1:c.561G>T	XP_016863314.1:p.Pro187=
XM_017007826.1:c.561G>T	XP_016863315.1:p.Pro187=
XM_017007827.2:c.561G>T	XP_016863316.1:p.Pro187=
XM_017007828.1:c.339G>T	XP_016863317.1:p.Pro113=
XM_017007829.1:c.105G>T	XP_016863318.1:p.Pro35=
XM_017007830.1:c.561G>T	XP_016863319.1:p.Pro187=
XR_001741151.1:n.631G>T
NM_145207.3:c.561G>T MANE Select	NP_660208.2:p.Pro187=
NM_001317799.2:c.558G>T	NP_001304728.1:p.Pro186=
NM_001345856.2:c.558G>T	NP_001332785.1:p.Pro186=