Canonical Allele Identifier: CA10608140

Gene: NDUFS2 ADAMTS4

Linked Data

• ClinVar Variation Id: 293263
• ClinVar RCV Id: RCV000400511
• dbSNP Id: rs189165754
• gnomAD v2: 1-161169207-G-A
• gnomAD v3: 1-161199417-G-A
• gnomAD v4: 1-161199417-G-A
• MyVariant Identifiers: chr1:g.161169207G>A (hg19) ; chr1:g.161199417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161199417G>A , CM000663.2:g.161199417G>A	GRCh38
NC_000001.10:g.161169207G>A , CM000663.1:g.161169207G>A	GRCh37
NC_000001.9:g.159435831G>A	NCBI36
NG_013352.1:g.5103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676535.1:n.64+1930G>A (NDUFS2)
ENST00000676600.1:c.-77+1930G>A (NDUFS2)	ENSP00000503989.1:n.-77+1930G>A
ENST00000676653.1:n.77+1930G>A (NDUFS2)
ENST00000677081.1:c.-240+1930G>A (NDUFS2)	ENSP00000503728.1:n.-240+1930G>A
ENST00000677138.1:c.-240+1930G>A (NDUFS2)	ENSP00000504839.1:n.-240+1930G>A
ENST00000677178.1:n.64+1930G>A (NDUFS2)
ENST00000677231.1:c.-240+1930G>A (NDUFS2)	ENSP00000503378.1:n.-240+1930G>A
ENST00000677350.1:n.64+1930G>A (NDUFS2)
ENST00000677383.1:n.64+1930G>A (NDUFS2)
ENST00000677457.1:c.-240+1930G>A (NDUFS2)	ENSP00000503294.1:n.-240+1930G>A
ENST00000677547.1:c.-240+1930G>A (NDUFS2)	ENSP00000504269.1:n.-240+1930G>A
ENST00000677550.1:c.-240+1930G>A (NDUFS2)	ENSP00000503353.1:n.-240+1930G>A
ENST00000677579.1:c.-240+1930G>A (NDUFS2)	ENSP00000504162.1:n.-240+1930G>A
ENST00000677613.1:c.-240+1930G>A (NDUFS2)	ENSP00000504258.1:n.-240+1930G>A
ENST00000677807.1:n.64+1930G>A (NDUFS2)
ENST00000677809.1:n.64+1930G>A (NDUFS2)
ENST00000677846.1:c.-240+1930G>A (NDUFS2)	ENSP00000504065.1:n.-240+1930G>A
ENST00000677925.1:n.64+1930G>A (NDUFS2)
ENST00000678052.1:n.64+1930G>A (NDUFS2)
ENST00000678492.1:n.64+1930G>A (NDUFS2)
ENST00000678507.1:c.-240+1930G>A (NDUFS2)	ENSP00000504199.1:n.-240+1930G>A
ENST00000678605.1:c.-240+1930G>A (NDUFS2)	ENSP00000503969.1:n.-240+1930G>A
ENST00000678613.1:n.64+1930G>A (NDUFS2)
ENST00000678793.1:c.-240+1930G>A (NDUFS2)	ENSP00000503431.1:n.-240+1930G>A
ENST00000678911.1:c.-240+1930G>A (NDUFS2)	ENSP00000503946.1:n.-240+1930G>A
ENST00000678966.1:n.64+1930G>A (NDUFS2)
ENST00000679064.1:c.-240+1930G>A (NDUFS2)	ENSP00000502868.1:n.-240+1930G>A
ENST00000679176.1:c.-346G>A (NDUFS2)	ENSP00000504170.1:n.-346G>A
ENST00000679215.1:n.64+1930G>A (NDUFS2)
ENST00000679282.1:c.-240+1930G>A (NDUFS2)	ENSP00000504533.1:n.-240+1930G>A
ENST00000367993.7:c.-346G>A (NDUFS2)	ENSP00000356972.3:n.-346G>A
ENST00000479948.5:n.53+2261G>A (NDUFS2)
ENST00000496133.5:n.69+1930G>A (NDUFS2)
NM_004550.4:c.-346G>A (NDUFS2)	NP_004541.1:n.-346G>A
XM_005245208.1:c.-240+1930G>A (NDUFS2)	XP_005245265.1:n.-240+1930G>A
XR_001737548.2:n.2923C>T (ADAMTS4)
XR_001737549.2:n.2923C>T (ADAMTS4)
NM_001377298.1:c.-240+1930G>A (NDUFS2)	NP_001364227.1:n.-240+1930G>A
NM_001377300.1:c.-240+1930G>A (NDUFS2)	NP_001364229.1:n.-240+1930G>A
NM_001377301.1:c.-346G>A (NDUFS2)	NP_001364230.1:n.-346G>A
NM_004550.5:c.-346G>A (NDUFS2)	NP_004541.1:n.-346G>A