Canonical Allele Identifier: CA303886275

Gene: SHC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.425228G>T , CM000681.2:g.425228G>T	GRCh38
NC_000019.9:g.425228G>T , CM000681.1:g.425228G>T	GRCh37
NC_000019.8:g.376228G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264554.11:c.1178C>A MANE Select	ENSP00000264554.4:p.Pro393Gln
ENST00000264554.10:c.1178C>A	ENSP00000264554.4:p.Pro393Gln
ENST00000590170.3:c.326-2849C>A
NM_012435.2:c.1178C>A	NP_036567.2:p.Pro393Gln
XM_011527893.1:c.1178C>A	XP_011526195.1:p.Pro393Gln
XM_011527894.1:c.1175-2772C>A	XP_011526196.1:n.1175-2772C>A
XM_011527895.1:c.1175-2772C>A	XP_011526197.1:n.1175-2772C>A
XM_011527896.1:c.707C>A	XP_011526198.1:p.Pro236Gln
XM_011527893.3:c.1178C>A	XP_011526195.1:p.Pro393Gln
XM_011527894.2:c.1175-2772C>A	XP_011526196.1:n.1175-2772C>A
XM_011527895.2:c.1175-2772C>A	XP_011526197.1:n.1175-2772C>A
XM_011527896.2:c.707C>A	XP_011526198.1:p.Pro236Gln
NM_001387056.1:c.1175-2772C>A	NP_001373985.1:n.1175-2772C>A
NM_012435.3:c.1178C>A MANE Select	NP_036567.2:p.Pro393Gln