Canonical Allele Identifier: CA10640000
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305911
ClinVar RCV Id: RCV000332403
dbSNP Id: rs749039621

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71094559G>A , CM000673.2:g.71094559G>A GRCh38
NC_000011.9:g.70805605G>A , CM000673.1:g.70805605G>A GRCh37
NC_000011.8:g.70483253G>A NCBI36
NG_042866.1:g.135238C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000601538.6:c.722C>T MANE Select ENSP00000469689.2:p.Ala241Val
ENST00000458632.2:c.130C>T
ENST00000601538.5:c.722C>T ENSP00000469689.2:p.Ala241Val
ENST00000608988.5:c.*285C>T ENSP00000476264.2:n.*285C>T
NM_012309.4:c.722C>T NP_036441.2:p.Ala241Val
XM_005277930.2:c.722C>T XP_005277987.1:p.Ala241Val
XM_006718478.2:c.722C>T XP_006718541.1:p.Ala241Val
XM_011544854.1:c.722C>T XP_011543156.1:p.Ala241Val
XM_011544855.1:c.722C>T XP_011543157.1:p.Ala241Val
XM_011544856.1:c.722C>T XP_011543158.1:p.Ala241Val
XM_011544857.1:c.722C>T XP_011543159.1:p.Ala241Val
XM_011544858.1:c.722C>T XP_011543160.1:p.Ala241Val
XM_017017387.1:c.722C>T XP_016872876.1:p.Ala241Val
XM_017017388.1:c.722C>T XP_016872877.1:p.Ala241Val
XM_017017389.1:c.722C>T XP_016872878.1:p.Ala241Val
NM_012309.5:c.722C>T MANE Select NP_036441.2:p.Ala241Val