Canonical Allele Identifier: CA706567024

Gene: SOS2

Linked Data

• dbSNP Id: rs1195321846
• gnomAD v3: 14-50180848-AAAAG-A
• gnomAD v4: 14-50180848-AAAAG-A
• MyVariant Identifiers: chr14:g.50647567_50647570del (hg19) ; chr14:g.50180849_50180852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180856_50180859del , CM000676.2:g.50180856_50180859del	GRCh38
NC_000014.8:g.50647574_50647577del , CM000676.1:g.50647574_50647577del	GRCh37
NC_000014.7:g.49717324_49717327del	NCBI36
NG_051073.1:g.55842_55845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.859-170_859-167del MANE Select	ENSP00000216373.5:n.859-170_859-167del
ENST00000216373.9:c.859-170_859-167del	ENSP00000216373.5:n.859-170_859-167del
ENST00000543680.5:c.859-170_859-167del	ENSP00000445328.1:n.859-170_859-167del
NM_006939.2:c.859-170_859-167del	NP_008870.2:n.859-170_859-167del
XM_005268021.1:c.679-170_679-167del	XP_005268078.1:n.679-170_679-167del
XM_011537103.1:c.820-170_820-167del	XP_011535405.1:n.820-170_820-167del
XM_011537104.1:c.859-170_859-167del	XP_011535406.1:n.859-170_859-167del
XR_943842.1:n.954-2931_954-2928del
XR_943843.1:n.954-2931_954-2928del
NM_006939.3:c.859-170_859-167del	NP_008870.2:n.859-170_859-167del
NM_006939.4:c.859-170_859-167del MANE Select	NP_008870.2:n.859-170_859-167del