Canonical Allele Identifier: CA389640321

Gene: SOS2

Linked Data

• dbSNP Id: rs1234329423
• MyVariant Identifiers: chr14:g.50597217A>G (hg19) ; chr14:g.50130499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130499A>G , CM000676.2:g.50130499A>G	GRCh38
NC_000014.8:g.50597217A>G , CM000676.1:g.50597217A>G	GRCh37
NC_000014.7:g.49666967A>G	NCBI36
NG_051073.1:g.106195T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.3337+2T>C MANE Select	ENSP00000216373.5:n.3337+2T>C
ENST00000216373.9:c.3337+2T>C	ENSP00000216373.5:n.3337+2T>C
ENST00000543680.5:c.3238+2T>C	ENSP00000445328.1:n.3238+2T>C
NM_006939.2:c.3337+2T>C	NP_008870.2:n.3337+2T>C
XM_005268021.1:c.3157+2T>C	XP_005268078.1:n.3157+2T>C
XM_011537103.1:c.3298+2T>C	XP_011535405.1:n.3298+2T>C
NM_006939.3:c.3337+2T>C	NP_008870.2:n.3337+2T>C
NM_006939.4:c.3337+2T>C MANE Select	NP_008870.2:n.3337+2T>C