Canonical Allele Identifier: CA392264566

Gene: AFG2B

Linked Data

• ClinVar Variation Id: 1275863
• ClinVar RCV Id: RCV003442896
• gnomAD v4: 15-45403508-T-C
• MyVariant Identifiers: chr15:g.45695706T>C (hg19) ; chr15:g.45403508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45403508T>C , CM000677.2:g.45403508T>C	GRCh38
NC_000015.9:g.45695706T>C , CM000677.1:g.45695706T>C	GRCh37
NC_000015.8:g.43482998T>C	NCBI36
NG_011674.2:g.3810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305560.11:c.1079T>C MANE Select	ENSP00000305494.6:p.Phe360Ser
ENST00000305560.10:c.1079T>C	ENSP00000305494.6:p.Phe360Ser
ENST00000531970.5:c.1079T>C	ENSP00000436823.1:p.Phe360Ser
ENST00000559860.2:n.1139T>C
NM_024063.2:c.1079T>C	NP_076968.2:p.Phe360Ser
NR_027635.1:n.1188T>C
XM_005254657.3:c.1079T>C	XP_005254714.1:p.Phe360Ser
XR_243126.3:n.1236T>C
NM_001323640.1:c.1079T>C	NP_001310569.1:p.Phe360Ser
NR_136645.1:n.1188T>C
NR_136646.1:n.1188T>C
NR_136647.1:n.1188T>C
NR_136648.1:n.1188T>C
XR_001751383.2:n.1121T>C
NM_024063.3:c.1079T>C MANE Select	NP_076968.2:p.Phe360Ser
NR_027635.2:n.1173T>C
NR_136645.2:n.1173T>C
NR_136646.2:n.1173T>C
NR_136647.2:n.1173T>C
NR_136648.2:n.1173T>C
NM_001323640.2:c.1079T>C	NP_001310569.1:p.Phe360Ser