Canonical Allele Identifier: CA6978029

Gene: SUCLA2

Linked Data

• ClinVar Variation Id: 2443636
• ClinVar RCV Id: RCV003152243
• dbSNP Id: rs767939956
• ExAC: 13:48563050 C / T
• gnomAD v2: 13-48563050-C-T
• gnomAD v4: 13-47988915-C-T
• MyVariant Identifiers: chr13:g.48563050C>T (hg19) ; chr13:g.47988915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988915C>T , CM000675.2:g.47988915C>T	GRCh38
NC_000013.10:g.48563050C>T , CM000675.1:g.48563050C>T	GRCh37
NC_000013.9:g.47461051C>T	NCBI36
NG_008241.1:g.17413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.164G>A	ENSP00000495674.1:p.Ser55Asn
ENST00000643023.1:c.338G>A	ENSP00000495664.1:p.Ser113Asn
ENST00000643584.1:c.338G>A	ENSP00000494987.1:p.Ser113Asn
ENST00000644338.1:c.338G>A	ENSP00000494723.1:p.Ser113Asn
ENST00000646602.1:c.338G>A	ENSP00000495250.1:p.Ser113Asn
ENST00000646804.1:c.164G>A	ENSP00000493977.1:p.Ser55Asn
ENST00000646932.1:c.338G>A MANE Select	ENSP00000494360.1:p.Ser113Asn
ENST00000647361.1:c.*131G>A	ENSP00000494607.1:n.*131G>A
ENST00000378654.8:c.338G>A	ENSP00000367923.3:p.Ser113Asn
ENST00000433022.1:c.90+12265G>A	ENSP00000415091.1:n.90+12265G>A
ENST00000434484.5:c.128G>A	ENSP00000392771.1:p.Ser43Asn
ENST00000470760.2:c.338G>A	ENSP00000488974.1:p.Ser113Asn
ENST00000497202.6:c.432G>A	ENSP00000489175.1:n.432G>A
NM_003850.2:c.338G>A	NP_003841.1:p.Ser113Asn
XM_011535292.1:c.101G>A	XP_011533594.1:p.Ser34Asn
XM_011535293.1:c.-65G>A	XP_011533595.1:n.-65G>A
XR_941688.1:n.382G>A
NM_003850.3:c.338G>A MANE Select	NP_003841.1:p.Ser113Asn