Canonical Allele Identifier: CA955752874

Gene: SUCLA2

Linked Data

• ClinVar Variation Id: 2875311
• ClinVar RCV Id: RCV003633218
• dbSNP Id: rs1950128969
• gnomAD v3: 13-47988999-C-T
• gnomAD v4: 13-47988999-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988999C>T , CM000675.2:g.47988999C>T	GRCh38
NC_000013.10:g.48563134C>T , CM000675.1:g.48563134C>T	GRCh37
NC_000013.9:g.47461135C>T	NCBI36
NG_008241.1:g.17329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.98-18G>A	ENSP00000495674.1:n.98-18G>A
ENST00000643023.1:c.272-18G>A	ENSP00000495664.1:n.272-18G>A
ENST00000643584.1:c.272-18G>A	ENSP00000494987.1:n.272-18G>A
ENST00000644338.1:c.272-18G>A	ENSP00000494723.1:n.272-18G>A
ENST00000646602.1:c.272-18G>A	ENSP00000495250.1:n.272-18G>A
ENST00000646804.1:c.98-18G>A	ENSP00000493977.1:n.98-18G>A
ENST00000646932.1:c.272-18G>A MANE Select	ENSP00000494360.1:n.272-18G>A
ENST00000647361.1:c.*65-18G>A	ENSP00000494607.1:n.*65-18G>A
ENST00000378654.8:c.272-18G>A	ENSP00000367923.3:n.272-18G>A
ENST00000433022.1:c.90+12181G>A	ENSP00000415091.1:n.90+12181G>A
ENST00000434484.5:c.62-18G>A	ENSP00000392771.1:n.62-18G>A
ENST00000470760.2:c.272-18G>A	ENSP00000488974.1:n.272-18G>A
ENST00000497202.6:c.366-18G>A	ENSP00000489175.1:n.366-18G>A
NM_003850.2:c.272-18G>A	NP_003841.1:n.272-18G>A
XM_011535292.1:c.35-18G>A	XP_011533594.1:n.35-18G>A
XM_011535293.1:c.-131-18G>A	XP_011533595.1:n.-131-18G>A
XR_941688.1:n.316-18G>A
NM_003850.3:c.272-18G>A MANE Select	NP_003841.1:n.272-18G>A