Canonical Allele Identifier: CA389649638

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50666498T>G (hg19) ; chr14:g.50199780T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199780T>G , CM000676.2:g.50199780T>G	GRCh38
NC_000014.8:g.50666498T>G , CM000676.1:g.50666498T>G	GRCh37
NC_000014.7:g.49736248T>G	NCBI36
NG_051073.1:g.36914A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.421A>C MANE Select	ENSP00000216373.5:p.Ile141Leu
ENST00000216373.9:c.421A>C	ENSP00000216373.5:p.Ile141Leu
ENST00000543680.5:c.421A>C	ENSP00000445328.1:p.Ile141Leu
ENST00000555666.1:n.600A>C
ENST00000556469.5:n.392A>C
NM_006939.2:c.421A>C	NP_008870.2:p.Ile141Leu
XM_005268021.1:c.241A>C	XP_005268078.1:p.Ile81Leu
XM_011537103.1:c.382A>C	XP_011535405.1:p.Ile128Leu
XM_011537104.1:c.421A>C	XP_011535406.1:p.Ile141Leu
XR_943842.1:n.1039+15908T>G
XR_943843.1:n.1039+15908T>G
NM_006939.3:c.421A>C	NP_008870.2:p.Ile141Leu
NM_006939.4:c.421A>C MANE Select	NP_008870.2:p.Ile141Leu