Canonical Allele Identifier: CA389649731

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50666543C>A (hg19) ; chr14:g.50199825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199825C>A , CM000676.2:g.50199825C>A	GRCh38
NC_000014.8:g.50666543C>A , CM000676.1:g.50666543C>A	GRCh37
NC_000014.7:g.49736293C>A	NCBI36
NG_051073.1:g.36869G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.376G>T MANE Select	ENSP00000216373.5:p.Val126Leu
ENST00000216373.9:c.376G>T	ENSP00000216373.5:p.Val126Leu
ENST00000543680.5:c.376G>T	ENSP00000445328.1:p.Val126Leu
ENST00000555666.1:n.555G>T
ENST00000556469.5:n.347G>T
NM_006939.2:c.376G>T	NP_008870.2:p.Val126Leu
XM_005268021.1:c.196G>T	XP_005268078.1:p.Val66Leu
XM_011537103.1:c.337G>T	XP_011535405.1:p.Val113Leu
XM_011537104.1:c.376G>T	XP_011535406.1:p.Val126Leu
XR_943842.1:n.1039+15953C>A
XR_943843.1:n.1039+15953C>A
NM_006939.3:c.376G>T	NP_008870.2:p.Val126Leu
NM_006939.4:c.376G>T MANE Select	NP_008870.2:p.Val126Leu