Canonical Allele Identifier: CA613839861

Gene: SOS2

Linked Data

• dbSNP Id: rs1218084562
• gnomAD v2: 14-50666624-T-TA
• gnomAD v4: 14-50199906-T-TA
• MyVariant Identifiers: chr14:g.50666624_50666625insA (hg19) ; chr14:g.50199906_50199907insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199907dup , CM000676.2:g.50199907dup	GRCh38
NC_000014.8:g.50666625dup , CM000676.1:g.50666625dup	GRCh37
NC_000014.7:g.49736375dup	NCBI36
NG_051073.1:g.36787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.346-52dup MANE Select	ENSP00000216373.5:n.346-52dup
ENST00000216373.9:c.346-52dup	ENSP00000216373.5:n.346-52dup
ENST00000543680.5:c.346-52dup	ENSP00000445328.1:n.346-52dup
ENST00000555666.1:n.525-52dup
ENST00000556469.5:n.317-52dup
NM_006939.2:c.346-52dup	NP_008870.2:n.346-52dup
XM_005268021.1:c.166-52dup	XP_005268078.1:n.166-52dup
XM_011537103.1:c.307-52dup	XP_011535405.1:n.307-52dup
XM_011537104.1:c.346-52dup	XP_011535406.1:n.346-52dup
XR_943842.1:n.1039+16035dup
XR_943843.1:n.1039+16035dup
NM_006939.3:c.346-52dup	NP_008870.2:n.346-52dup
NM_006939.4:c.346-52dup MANE Select	NP_008870.2:n.346-52dup