Canonical Allele Identifier: CA963008795

Gene: SOS2

Linked Data

• gnomAD v3: 14-50180532-T-TAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 14-50180532-T-TAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180532_50180533insAAAAAAAAAAAAAAAAAAAAAA , CM000676.2:g.50180532_50180533insAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000014.8:g.50647250_50647251insAAAAAAAAAAAAAAAAAAAAAA , CM000676.1:g.50647250_50647251insAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000014.7:g.49717000_49717001insAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_051073.1:g.56161_56162insTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000216373.5:n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT
ENST00000216373.9:c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT	ENSP00000216373.5:n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT
ENST00000543680.5:c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT	ENSP00000445328.1:n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT
ENST00000555794.2:c.83+39_83+40insTTTTTTTTTTTTTTTTTTTTTT
NM_006939.2:c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT	NP_008870.2:n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT
XM_005268021.1:c.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTT	XP_005268078.1:n.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTT
XM_011537103.1:c.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTT	XP_011535405.1:n.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTT
XM_011537104.1:c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT	XP_011535406.1:n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT
XR_943842.1:n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAAAA
XR_943843.1:n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAAAA
NM_006939.3:c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT	NP_008870.2:n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT
NM_006939.4:c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_008870.2:n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT