Canonical Allele Identifier: CA713163154

Gene: AFG2B

Linked Data

• dbSNP Id: rs2467853
• MyVariant Identifiers: chr15:g.45698793T>A (hg19) ; chr15:g.45406595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45406595T>A , CM000677.2:g.45406595T>A	GRCh38
NC_000015.9:g.45698793T>A , CM000677.1:g.45698793T>A	GRCh37
NC_000015.8:g.43486085T>A	NCBI36
NG_011674.2:g.723A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305560.11:c.1275+1090T>A MANE Select	ENSP00000305494.6:n.1275+1090T>A
ENST00000305560.10:c.1275+1090T>A	ENSP00000305494.6:n.1275+1090T>A
ENST00000525552.1:c.48-434T>A
ENST00000531970.5:c.1275+1090T>A	ENSP00000436823.1:n.1275+1090T>A
ENST00000559860.2:n.1335+1090T>A
NM_024063.2:c.1275+1090T>A	NP_076968.2:n.1275+1090T>A
NR_027635.1:n.1384+1090T>A
XM_005254657.3:c.1276-467T>A	XP_005254714.1:n.1276-467T>A
XR_243126.3:n.1433-434T>A
NM_001323640.1:c.1275+1090T>A	NP_001310569.1:n.1275+1090T>A
NR_136645.1:n.1391+1083T>A
NR_136646.1:n.1385-434T>A
NR_136647.1:n.1385-467T>A
NR_136648.1:n.1385-434T>A
XR_001751383.2:n.1318-467T>A
NM_024063.3:c.1275+1090T>A MANE Select	NP_076968.2:n.1275+1090T>A
NR_027635.2:n.1369+1090T>A
NR_136645.2:n.1376+1083T>A
NR_136646.2:n.1370-434T>A
NR_136647.2:n.1370-467T>A
NR_136648.2:n.1370-434T>A
NM_001323640.2:c.1275+1090T>A	NP_001310569.1:n.1275+1090T>A