Canonical Allele Identifier: CA389640555

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50597308G>T (hg19) ; chr14:g.50130590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130590G>T , CM000676.2:g.50130590G>T	GRCh38
NC_000014.8:g.50597308G>T , CM000676.1:g.50597308G>T	GRCh37
NC_000014.7:g.49667058G>T	NCBI36
NG_051073.1:g.106104C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3248C>A MANE Select	ENSP00000216373.5:p.Pro1083Gln
ENST00000216373.9:c.3248C>A	ENSP00000216373.5:p.Pro1083Gln
ENST00000543680.5:c.3149C>A	ENSP00000445328.1:p.Pro1050Gln
NM_006939.2:c.3248C>A	NP_008870.2:p.Pro1083Gln
XM_005268021.1:c.3068C>A	XP_005268078.1:p.Pro1023Gln
XM_011537103.1:c.3209C>A	XP_011535405.1:p.Pro1070Gln
NM_006939.3:c.3248C>A	NP_008870.2:p.Pro1083Gln
NM_006939.4:c.3248C>A MANE Select	NP_008870.2:p.Pro1083Gln