Canonical Allele Identifier: CA939354817

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 992866
• ClinVar RCV Id: RCV001281636
• dbSNP Id: rs1952667695
• gnomAD v3: 11-71147139-ATGACCACG-A
• gnomAD v4: 11-71147139-ATGACCACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71147140_71147147del , CM000673.2:g.71147140_71147147del	GRCh38
NC_000011.9:g.70858186_70858193del , CM000673.1:g.70858186_70858193del	GRCh37
NC_000011.8:g.70535834_70535841del	NCBI36
NG_042866.1:g.82650_82657del

Transcript Alleles

HGVS	Amino-acid change
ENST00000601538.6:c.180_187del MANE Select	ENSP00000469689.2:p.Val61ProfsTer2
ENST00000601538.5:c.180_187del	ENSP00000469689.2:p.Val61ProfsTer2
ENST00000608988.5:c.180_187del	ENSP00000476264.2:p.Val61ProfsTer2
NM_012309.4:c.180_187del	NP_036441.2:p.Val61ProfsTer2
XM_005277930.2:c.180_187del	XP_005277987.1:p.Val61ProfsTer2
XM_006718478.2:c.180_187del	XP_006718541.1:p.Val61ProfsTer2
XM_011544854.1:c.180_187del	XP_011543156.1:p.Val61ProfsTer2
XM_011544855.1:c.180_187del	XP_011543157.1:p.Val61ProfsTer2
XM_011544856.1:c.180_187del	XP_011543158.1:p.Val61ProfsTer2
XM_011544857.1:c.180_187del	XP_011543159.1:p.Val61ProfsTer2
XM_011544858.1:c.180_187del	XP_011543160.1:p.Val61ProfsTer2
XM_017017387.1:c.180_187del	XP_016872876.1:p.Val61ProfsTer2
XM_017017388.1:c.180_187del	XP_016872877.1:p.Val61ProfsTer2
XM_017017389.1:c.180_187del	XP_016872878.1:p.Val61ProfsTer2
NM_012309.5:c.180_187del MANE Select	NP_036441.2:p.Val61ProfsTer2