Canonical Allele Identifier: CA389640390

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50597246A>T (hg19) ; chr14:g.50130528A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130528A>T , CM000676.2:g.50130528A>T	GRCh38
NC_000014.8:g.50597246A>T , CM000676.1:g.50597246A>T	GRCh37
NC_000014.7:g.49666996A>T	NCBI36
NG_051073.1:g.106166T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3310T>A MANE Select	ENSP00000216373.5:p.Leu1104Ile
ENST00000216373.9:c.3310T>A	ENSP00000216373.5:p.Leu1104Ile
ENST00000543680.5:c.3211T>A	ENSP00000445328.1:p.Leu1071Ile
NM_006939.2:c.3310T>A	NP_008870.2:p.Leu1104Ile
XM_005268021.1:c.3130T>A	XP_005268078.1:p.Leu1044Ile
XM_011537103.1:c.3271T>A	XP_011535405.1:p.Leu1091Ile
NM_006939.3:c.3310T>A	NP_008870.2:p.Leu1104Ile
NM_006939.4:c.3310T>A MANE Select	NP_008870.2:p.Leu1104Ile