Canonical Allele Identifier: CA104805794

Gene: AFG2A

Linked Data

• dbSNP Id: rs972709269
• MyVariant Identifiers: chr4:g.123845217C>T (hg19) ; chr4:g.122924062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122924062C>T , CM000666.2:g.122924062C>T	GRCh38
NC_000004.11:g.123845217C>T , CM000666.1:g.123845217C>T	GRCh37
NC_000004.10:g.124064667C>T	NCBI36
NG_030404.1:g.3943G>A
NG_051570.1:g.5993C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274008.5:c.163+757C>T MANE Select	ENSP00000274008.3:n.163+757C>T
ENST00000674886.1:n.228+757C>T
ENST00000675612.1:c.163+757C>T	ENSP00000502453.1:n.163+757C>T
ENST00000274008.4:c.163+757C>T	ENSP00000274008.3:n.163+757C>T
ENST00000422835.2:n.205+757C>T
NM_145207.2:c.163+757C>T	NP_660208.2:n.163+757C>T
XM_005262783.3:c.163+757C>T	XP_005262840.1:n.163+757C>T
XM_011531678.1:c.163+757C>T	XP_011529980.1:n.163+757C>T
XM_011531679.1:c.163+757C>T	XP_011529981.1:n.163+757C>T
NM_001317799.1:c.163+757C>T	NP_001304728.1:n.163+757C>T
NM_001345856.1:c.163+757C>T	NP_001332785.1:n.163+757C>T
XM_011531678.2:c.163+757C>T	XP_011529980.1:n.163+757C>T
XM_011531679.3:c.163+757C>T	XP_011529981.1:n.163+757C>T
XM_017007825.1:c.163+757C>T	XP_016863314.1:n.163+757C>T
XM_017007826.1:c.163+757C>T	XP_016863315.1:n.163+757C>T
XM_017007827.2:c.163+757C>T	XP_016863316.1:n.163+757C>T
XM_017007828.1:c.-57+779C>T	XP_016863317.1:n.-57+779C>T
XM_017007830.1:c.163+757C>T	XP_016863319.1:n.163+757C>T
XR_001741151.1:n.236+757C>T
NM_145207.3:c.163+757C>T MANE Select	NP_660208.2:n.163+757C>T
NM_001317799.2:c.163+757C>T	NP_001304728.1:n.163+757C>T
NM_001345856.2:c.163+757C>T	NP_001332785.1:n.163+757C>T