Canonical Allele Identifier: CA358106454

Gene: AFG2A

Linked Data

• MyVariant Identifiers: chr4:g.123859402T>C (hg19) ; chr4:g.122938247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938247T>C , CM000666.2:g.122938247T>C	GRCh38
NC_000004.11:g.123859402T>C , CM000666.1:g.123859402T>C	GRCh37
NC_000004.10:g.124078852T>C	NCBI36
NG_051570.1:g.20178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1456T>C MANE Select	ENSP00000274008.3:p.Ser486Pro
ENST00000674886.1:n.1518T>C
ENST00000675612.1:c.1453T>C	ENSP00000502453.1:p.Ser485Pro
ENST00000274008.4:c.1456T>C	ENSP00000274008.3:p.Ser486Pro
ENST00000422835.2:n.1498T>C
NM_145207.2:c.1456T>C	NP_660208.2:p.Ser486Pro
XM_005262783.3:c.1453T>C	XP_005262840.1:p.Ser485Pro
XM_011531678.1:c.1453T>C	XP_011529980.1:p.Ser485Pro
XM_011531679.1:c.1456T>C	XP_011529981.1:p.Ser486Pro
NM_001317799.1:c.1453T>C	NP_001304728.1:p.Ser485Pro
NM_001345856.1:c.1453T>C	NP_001332785.1:p.Ser485Pro
XM_011531678.2:c.1453T>C	XP_011529980.1:p.Ser485Pro
XM_011531679.3:c.1456T>C	XP_011529981.1:p.Ser486Pro
XM_017007825.1:c.1456T>C	XP_016863314.1:p.Ser486Pro
XM_017007826.1:c.1456T>C	XP_016863315.1:p.Ser486Pro
XM_017007827.2:c.1456T>C	XP_016863316.1:p.Ser486Pro
XM_017007828.1:c.1234T>C	XP_016863317.1:p.Ser412Pro
XM_017007829.1:c.1000T>C	XP_016863318.1:p.Ser334Pro
XM_017007830.1:c.1456T>C	XP_016863319.1:p.Ser486Pro
XR_001741151.1:n.1526T>C
NM_145207.3:c.1456T>C MANE Select	NP_660208.2:p.Ser486Pro
NM_001317799.2:c.1453T>C	NP_001304728.1:p.Ser485Pro
NM_001345856.2:c.1453T>C	NP_001332785.1:p.Ser485Pro