Canonical Allele Identifier: CA486173158
Gene: SOS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50666472A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199754A>C , CM000676.2:g.50199754A>C GRCh38
NC_000014.8:g.50666472A>C , CM000676.1:g.50666472A>C GRCh37
NC_000014.7:g.49736222A>C NCBI36
NG_051073.1:g.36940T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.447T>G MANE Select ENSP00000216373.5:p.Val149=
ENST00000216373.9:c.447T>G ENSP00000216373.5:p.Val149=
ENST00000543680.5:c.447T>G ENSP00000445328.1:p.Val149=
ENST00000555666.1:n.626T>G
ENST00000556469.5:n.418T>G
NM_006939.2:c.447T>G NP_008870.2:p.Val149=
XM_005268021.1:c.267T>G XP_005268078.1:p.Val89=
XM_011537103.1:c.408T>G XP_011535405.1:p.Val136=
XM_011537104.1:c.447T>G XP_011535406.1:p.Val149=
XR_943842.1:n.1039+15882A>C
XR_943843.1:n.1039+15882A>C
NM_006939.3:c.447T>G NP_008870.2:p.Val149=
NM_006939.4:c.447T>G MANE Select NP_008870.2:p.Val149=