Canonical Allele Identifier: CA6978019

Gene: SUCLA2

Linked Data

• dbSNP Id: rs771225333
• ExAC: 13:48562980 T / TA
• gnomAD v3: 13-47988845-T-TA
• gnomAD v4: 13-47988845-T-TA
• MyVariant Identifiers: chr13:g.48562980_48562981insA (hg19) ; chr13:g.47988845_47988846insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988847dup , CM000675.2:g.47988847dup	GRCh38
NC_000013.10:g.48562982dup , CM000675.1:g.48562982dup	GRCh37
NC_000013.9:g.47460983dup	NCBI36
NG_008241.1:g.17482dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642944.1:c.197+36dup	ENSP00000495674.1:n.197+36dup
ENST00000643023.1:c.371+36dup	ENSP00000495664.1:n.371+36dup
ENST00000643584.1:c.371+36dup	ENSP00000494987.1:n.371+36dup
ENST00000644338.1:c.371+36dup	ENSP00000494723.1:n.371+36dup
ENST00000646602.1:c.371+36dup	ENSP00000495250.1:n.371+36dup
ENST00000646804.1:c.197+36dup	ENSP00000493977.1:n.197+36dup
ENST00000646932.1:c.371+36dup MANE Select	ENSP00000494360.1:n.371+36dup
ENST00000647361.1:c.*164+36dup	ENSP00000494607.1:n.*164+36dup
ENST00000378654.8:c.371+36dup	ENSP00000367923.3:n.371+36dup
ENST00000433022.1:c.90+12334dup	ENSP00000415091.1:n.90+12334dup
ENST00000434484.5:c.161+36dup	ENSP00000392771.1:n.161+36dup
ENST00000470760.2:c.371+36dup	ENSP00000488974.1:n.371+36dup
ENST00000497202.6:c.465+36dup	ENSP00000489175.1:n.465+36dup
NM_003850.2:c.371+36dup	NP_003841.1:n.371+36dup
XM_011535292.1:c.134+36dup	XP_011533594.1:n.134+36dup
XM_011535293.1:c.-32+36dup	XP_011533595.1:n.-32+36dup
XR_941688.1:n.415+36dup
NM_003850.3:c.371+36dup MANE Select	NP_003841.1:n.371+36dup