Canonical Allele Identifier: CA9015229
Gene: SHC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.422163C>T , CM000681.2:g.422163C>T GRCh38
NC_000019.9:g.422163C>T , CM000681.1:g.422163C>T GRCh37
NC_000019.8:g.373163C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264554.11:c.1603G>A MANE Select ENSP00000264554.4:p.Val535Met
ENST00000264554.10:c.1603G>A ENSP00000264554.4:p.Val535Met
ENST00000588376.5:n.666G>A
ENST00000590170.3:c.542G>A
NM_012435.2:c.1603G>A NP_036567.2:p.Val535Met
XM_011527893.1:c.1603G>A XP_011526195.1:p.Val535Met
XM_011527894.1:c.1468G>A XP_011526196.1:p.Val490Met
XM_011527895.1:c.1468G>A XP_011526197.1:p.Val490Met
XM_011527896.1:c.1132G>A XP_011526198.1:p.Val378Met
XM_011527893.3:c.1603G>A XP_011526195.1:p.Val535Met
XM_011527894.2:c.1468G>A XP_011526196.1:p.Val490Met
XM_011527895.2:c.1468G>A XP_011526197.1:p.Val490Met
XM_011527896.2:c.1132G>A XP_011526198.1:p.Val378Met
NM_001387056.1:c.1468G>A NP_001373985.1:p.Val490Met
NM_012435.3:c.1603G>A MANE Select NP_036567.2:p.Val535Met