Canonical Allele Identifier: CA389640415

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50597258G>T (hg19) ; chr14:g.50130540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130540G>T , CM000676.2:g.50130540G>T	GRCh38
NC_000014.8:g.50597258G>T , CM000676.1:g.50597258G>T	GRCh37
NC_000014.7:g.49667008G>T	NCBI36
NG_051073.1:g.106154C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3298C>A MANE Select	ENSP00000216373.5:p.Leu1100Ile
ENST00000216373.9:c.3298C>A	ENSP00000216373.5:p.Leu1100Ile
ENST00000543680.5:c.3199C>A	ENSP00000445328.1:p.Leu1067Ile
NM_006939.2:c.3298C>A	NP_008870.2:p.Leu1100Ile
XM_005268021.1:c.3118C>A	XP_005268078.1:p.Leu1040Ile
XM_011537103.1:c.3259C>A	XP_011535405.1:p.Leu1087Ile
NM_006939.3:c.3298C>A	NP_008870.2:p.Leu1100Ile
NM_006939.4:c.3298C>A MANE Select	NP_008870.2:p.Leu1100Ile