Canonical Allele Identifier: CA613838925

Gene: SOS2

Linked Data

• dbSNP Id: rs1178601220
• gnomAD v2: 14-50647586-AAAAAG-A
• gnomAD v3: 14-50180868-AAAAAG-A
• gnomAD v4: 14-50180868-AAAAAG-A
• MyVariant Identifiers: chr14:g.50647587_50647591del (hg19) ; chr14:g.50180869_50180873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180870_50180874del , CM000676.2:g.50180870_50180874del	GRCh38
NC_000014.8:g.50647588_50647592del , CM000676.1:g.50647588_50647592del	GRCh37
NC_000014.7:g.49717338_49717342del	NCBI36
NG_051073.1:g.55821_55825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.859-191_859-187del MANE Select	ENSP00000216373.5:n.859-191_859-187del
ENST00000216373.9:c.859-191_859-187del	ENSP00000216373.5:n.859-191_859-187del
ENST00000543680.5:c.859-191_859-187del	ENSP00000445328.1:n.859-191_859-187del
NM_006939.2:c.859-191_859-187del	NP_008870.2:n.859-191_859-187del
XM_005268021.1:c.679-191_679-187del	XP_005268078.1:n.679-191_679-187del
XM_011537103.1:c.820-191_820-187del	XP_011535405.1:n.820-191_820-187del
XM_011537104.1:c.859-191_859-187del	XP_011535406.1:n.859-191_859-187del
XR_943842.1:n.954-2917_954-2913del
XR_943843.1:n.954-2917_954-2913del
NM_006939.3:c.859-191_859-187del	NP_008870.2:n.859-191_859-187del
NM_006939.4:c.859-191_859-187del MANE Select	NP_008870.2:n.859-191_859-187del