Canonical Allele Identifier: CA312999

Gene: SUCLA2

Linked Data

• ClinVar Variation Id: 203945
• ClinVar RCV Id: RCV000186170 ; RCV000320958
• dbSNP Id: rs367890526
• ExAC: 13:48563129 C / G
• gnomAD v2: 13-48563129-C-G
• gnomAD v3: 13-47988994-C-G
• gnomAD v4: 13-47988994-C-G
• MyVariant Identifiers: chr13:g.48563129C>G (hg19) ; chr13:g.47988994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988994C>G , CM000675.2:g.47988994C>G	GRCh38
NC_000013.10:g.48563129C>G , CM000675.1:g.48563129C>G	GRCh37
NC_000013.9:g.47461130C>G	NCBI36
NG_008241.1:g.17334G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.98-13G>C	ENSP00000495674.1:n.98-13G>C
ENST00000643023.1:c.272-13G>C	ENSP00000495664.1:n.272-13G>C
ENST00000643584.1:c.272-13G>C	ENSP00000494987.1:n.272-13G>C
ENST00000644338.1:c.272-13G>C	ENSP00000494723.1:n.272-13G>C
ENST00000646602.1:c.272-13G>C	ENSP00000495250.1:n.272-13G>C
ENST00000646804.1:c.98-13G>C	ENSP00000493977.1:n.98-13G>C
ENST00000646932.1:c.272-13G>C MANE Select	ENSP00000494360.1:n.272-13G>C
ENST00000647361.1:c.*65-13G>C	ENSP00000494607.1:n.*65-13G>C
ENST00000378654.8:c.272-13G>C	ENSP00000367923.3:n.272-13G>C
ENST00000433022.1:c.90+12186G>C	ENSP00000415091.1:n.90+12186G>C
ENST00000434484.5:c.62-13G>C	ENSP00000392771.1:n.62-13G>C
ENST00000470760.2:c.272-13G>C	ENSP00000488974.1:n.272-13G>C
ENST00000497202.6:c.366-13G>C	ENSP00000489175.1:n.366-13G>C
NM_003850.2:c.272-13G>C	NP_003841.1:n.272-13G>C
XM_011535292.1:c.35-13G>C	XP_011533594.1:n.35-13G>C
XM_011535293.1:c.-131-13G>C	XP_011533595.1:n.-131-13G>C
XR_941688.1:n.316-13G>C
NM_003850.3:c.272-13G>C MANE Select	NP_003841.1:n.272-13G>C