Canonical Allele Identifier: CA486175106

Gene: SOS2

Linked Data

• dbSNP Id: rs10707547
• gnomAD v2: 14-50619682-CAA-C
• gnomAD v3: 14-50152964-CAA-C
• gnomAD v4: 14-50152964-CAA-C
• MyVariant Identifiers: chr14:g.50619683_50619684del (hg19) ; chr14:g.50152965_50152966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50152975_50152976del , CM000676.2:g.50152975_50152976del	GRCh38
NC_000014.8:g.50619693_50619694del , CM000676.1:g.50619693_50619694del	GRCh37
NC_000014.7:g.49689443_49689444del	NCBI36
NG_051073.1:g.83728_83729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2161+104_2161+105del MANE Select	ENSP00000216373.5:n.2161+104_2161+105del
ENST00000216373.9:c.2161+104_2161+105del	ENSP00000216373.5:n.2161+104_2161+105del
ENST00000543680.5:c.2062+104_2062+105del	ENSP00000445328.1:n.2062+104_2062+105del
NM_006939.2:c.2161+104_2161+105del	NP_008870.2:n.2161+104_2161+105del
XM_005268021.1:c.1981+104_1981+105del	XP_005268078.1:n.1981+104_1981+105del
XM_011537103.1:c.2122+104_2122+105del	XP_011535405.1:n.2122+104_2122+105del
XM_011537104.1:c.2161+104_2161+105del	XP_011535406.1:n.2161+104_2161+105del
NM_006939.3:c.2161+104_2161+105del	NP_008870.2:n.2161+104_2161+105del
NM_006939.4:c.2161+104_2161+105del MANE Select	NP_008870.2:n.2161+104_2161+105del