Canonical Allele Identifier: CA6162095

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 305912
• ClinVar RCV Id: RCV000368364 ; RCV003409474 ; RCV002522203
• dbSNP Id: rs183556625
• ExAC: 11:70805702 C / T
• gnomAD v2: 11-70805702-C-T
• gnomAD v3: 11-71094656-C-T
• gnomAD v4: 11-71094656-C-T
• MyVariant Identifiers: chr11:g.70805702C>T (hg19) ; chr11:g.71094656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71094656C>T , CM000673.2:g.71094656C>T	GRCh38
NC_000011.9:g.70805702C>T , CM000673.1:g.70805702C>T	GRCh37
NC_000011.8:g.70483350C>T	NCBI36
NG_042866.1:g.135141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601538.6:c.625G>A MANE Select	ENSP00000469689.2:p.Asp209Asn
ENST00000458632.2:c.33G>A
ENST00000601538.5:c.625G>A	ENSP00000469689.2:p.Asp209Asn
ENST00000608988.5:c.*188G>A	ENSP00000476264.2:n.*188G>A
NM_012309.4:c.625G>A	NP_036441.2:p.Asp209Asn
XM_005277930.2:c.625G>A	XP_005277987.1:p.Asp209Asn
XM_006718478.2:c.625G>A	XP_006718541.1:p.Asp209Asn
XM_011544854.1:c.625G>A	XP_011543156.1:p.Asp209Asn
XM_011544855.1:c.625G>A	XP_011543157.1:p.Asp209Asn
XM_011544856.1:c.625G>A	XP_011543158.1:p.Asp209Asn
XM_011544857.1:c.625G>A	XP_011543159.1:p.Asp209Asn
XM_011544858.1:c.625G>A	XP_011543160.1:p.Asp209Asn
XM_017017387.1:c.625G>A	XP_016872876.1:p.Asp209Asn
XM_017017388.1:c.625G>A	XP_016872877.1:p.Asp209Asn
XM_017017389.1:c.625G>A	XP_016872878.1:p.Asp209Asn
NM_012309.5:c.625G>A MANE Select	NP_036441.2:p.Asp209Asn