Canonical Allele Identifier: CA563500013

Gene: NDUFA2 IK

Linked Data

• dbSNP Id: rs1324001162
• gnomAD v2: 5-140027198-G-A
• gnomAD v4: 5-140647613-G-A
• MyVariant Identifiers: chr5:g.140027198G>A (hg19) ; chr5:g.140647613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140647613G>A , CM000667.2:g.140647613G>A	GRCh38
NC_000005.9:g.140027198G>A , CM000667.1:g.140027198G>A	GRCh37
NC_000005.8:g.140007382G>A	NCBI36
NG_021417.1:g.5173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252102.9:c.-30C>T (NDUFA2) MANE Select	ENSP00000252102.5:n.-30C>T
ENST00000252102.8:c.-30C>T (NDUFA2)	ENSP00000252102.4:n.-30C>T
ENST00000502960.1:n.159C>T (NDUFA2)
ENST00000512088.1:c.-30C>T (NDUFA2)	ENSP00000427220.1:n.-30C>T
ENST00000513256.5:c.4+304G>A (IK)	ENSP00000425564.1:n.4+304G>A
NM_001185012.1:c.-30C>T (NDUFA2)	NP_001171941.1:n.-30C>T
NM_002488.4:c.-30C>T (NDUFA2)	NP_002479.1:n.-30C>T
NR_033697.1:n.173C>T (NDUFA2)
NM_002488.5:c.-30C>T (NDUFA2) MANE Select	NP_002479.1:n.-30C>T
NM_001185012.2:c.-30C>T (NDUFA2)	NP_001171941.1:n.-30C>T
NR_033697.2:n.18C>T (NDUFA2)