Canonical Allele Identifier: CA9015290

Gene: SHC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.422351C>T , CM000681.2:g.422351C>T	GRCh38
NC_000019.9:g.422351C>T , CM000681.1:g.422351C>T	GRCh37
NC_000019.8:g.373351C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264554.11:c.1415G>A MANE Select	ENSP00000264554.4:p.Arg472Gln
ENST00000264554.10:c.1415G>A	ENSP00000264554.4:p.Arg472Gln
ENST00000588376.5:n.478G>A
ENST00000590170.3:c.354G>A
NM_012435.2:c.1415G>A	NP_036567.2:p.Arg472Gln
XM_011527893.1:c.1415G>A	XP_011526195.1:p.Arg472Gln
XM_011527894.1:c.1280G>A	XP_011526196.1:p.Arg427Gln
XM_011527895.1:c.1280G>A	XP_011526197.1:p.Arg427Gln
XM_011527896.1:c.944G>A	XP_011526198.1:p.Arg315Gln
XM_011527893.3:c.1415G>A	XP_011526195.1:p.Arg472Gln
XM_011527894.2:c.1280G>A	XP_011526196.1:p.Arg427Gln
XM_011527895.2:c.1280G>A	XP_011526197.1:p.Arg427Gln
XM_011527896.2:c.944G>A	XP_011526198.1:p.Arg315Gln
NM_001387056.1:c.1280G>A	NP_001373985.1:p.Arg427Gln
NM_012435.3:c.1415G>A MANE Select	NP_036567.2:p.Arg472Gln