Canonical Allele Identifier: CA10639998
Gene: SHANK2 HGNC NCBI

Linked Data

dbSNP Id: rs1469529651
MyVariant Identifiers: chr11:g.71084538C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71084538C>T , CM000673.2:g.71084538C>T GRCh38
NG_042866.1:g.145259G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000601538.6:c.912+7884G>A MANE Select ENSP00000469689.2:n.912+7884G>A
ENST00000458632.2:c.320+7884G>A
ENST00000601538.5:c.912+7884G>A ENSP00000469689.2:n.912+7884G>A
ENST00000608988.5:c.*475+7884G>A ENSP00000476264.2:n.*475+7884G>A
ENST00000618363.4:c.56+7884G>A
NM_012309.4:c.912+7884G>A NP_036441.2:n.912+7884G>A
XM_005277930.2:c.912+7884G>A XP_005277987.1:n.912+7884G>A
XM_006718478.2:c.912+7884G>A XP_006718541.1:n.912+7884G>A
XM_011544854.1:c.912+7884G>A XP_011543156.1:n.912+7884G>A
XM_011544855.1:c.912+7884G>A XP_011543157.1:n.912+7884G>A
XM_011544856.1:c.912+7884G>A XP_011543158.1:n.912+7884G>A
XM_011544857.1:c.912+7884G>A XP_011543159.1:n.912+7884G>A
XM_011544858.1:c.912+7884G>A XP_011543160.1:n.912+7884G>A
XM_017017387.1:c.912+7884G>A XP_016872876.1:n.912+7884G>A
XM_017017388.1:c.912+7884G>A XP_016872877.1:n.912+7884G>A
XM_017017389.1:c.912+7884G>A XP_016872878.1:n.912+7884G>A
NM_012309.5:c.912+7884G>A MANE Select NP_036441.2:n.912+7884G>A