Canonical Allele Identifier: CA7177406

Gene: SOS2

Linked Data

• dbSNP Id: rs758375564
• ExAC: 14:50647270 A / AAC
• MyVariant Identifiers: chr14:g.50647272_50647273insAC (hg19) ; chr14:g.50647270_50647271insAC (hg19) ; chr14:g.50180552_50180553insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180553_50180554dup , CM000676.2:g.50180553_50180554dup	GRCh38
NC_000014.8:g.50647271_50647272dup , CM000676.1:g.50647271_50647272dup	GRCh37
NC_000014.7:g.49717021_49717022dup	NCBI36
NG_051073.1:g.56140_56141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.969+18_969+19dup MANE Select	ENSP00000216373.5:n.969+18_969+19dup
ENST00000216373.9:c.969+18_969+19dup	ENSP00000216373.5:n.969+18_969+19dup
ENST00000543680.5:c.969+18_969+19dup	ENSP00000445328.1:n.969+18_969+19dup
ENST00000555794.2:c.83+18_83+19dup
NM_006939.2:c.969+18_969+19dup	NP_008870.2:n.969+18_969+19dup
XM_005268021.1:c.789+18_789+19dup	XP_005268078.1:n.789+18_789+19dup
XM_011537103.1:c.930+18_930+19dup	XP_011535405.1:n.930+18_930+19dup
XM_011537104.1:c.969+18_969+19dup	XP_011535406.1:n.969+18_969+19dup
XR_943842.1:n.954-3234_954-3233dup
XR_943843.1:n.954-3234_954-3233dup
NM_006939.3:c.969+18_969+19dup	NP_008870.2:n.969+18_969+19dup
NM_006939.4:c.969+18_969+19dup MANE Select	NP_008870.2:n.969+18_969+19dup