Canonical Allele Identifier: CA963008561

Gene: SOS2

Linked Data

• dbSNP Id: rs1884701491
• gnomAD v3: 14-50152793-CATCTCT-C
• gnomAD v4: 14-50152793-CATCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50152795_50152800del , CM000676.2:g.50152795_50152800del	GRCh38
NC_000014.8:g.50619513_50619518del , CM000676.1:g.50619513_50619518del	GRCh37
NC_000014.7:g.49689263_49689268del	NCBI36
NG_051073.1:g.83895_83900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2161+271_2161+276del MANE Select	ENSP00000216373.5:n.2161+271_2161+276del
ENST00000216373.9:c.2161+271_2161+276del	ENSP00000216373.5:n.2161+271_2161+276del
ENST00000543680.5:c.2062+271_2062+276del	ENSP00000445328.1:n.2062+271_2062+276del
NM_006939.2:c.2161+271_2161+276del	NP_008870.2:n.2161+271_2161+276del
XM_005268021.1:c.1981+271_1981+276del	XP_005268078.1:n.1981+271_1981+276del
XM_011537103.1:c.2122+271_2122+276del	XP_011535405.1:n.2122+271_2122+276del
XM_011537104.1:c.2161+271_2161+276del	XP_011535406.1:n.2161+271_2161+276del
NM_006939.3:c.2161+271_2161+276del	NP_008870.2:n.2161+271_2161+276del
NM_006939.4:c.2161+271_2161+276del MANE Select	NP_008870.2:n.2161+271_2161+276del