Canonical Allele Identifier: CA6162172

Gene: SHANK2

Linked Data

• dbSNP Id: rs782296061
• ExAC: 11:70858210 T / G
• gnomAD v2: 11-70858210-T-G
• gnomAD v4: 11-71147164-T-G
• MyVariant Identifiers: chr11:g.70858210T>G (hg19) ; chr11:g.71147164T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71147164T>G , CM000673.2:g.71147164T>G	GRCh38
NC_000011.9:g.70858210T>G , CM000673.1:g.70858210T>G	GRCh37
NC_000011.8:g.70535858T>G	NCBI36
NG_042866.1:g.82633A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601538.6:c.163A>C MANE Select	ENSP00000469689.2:p.Asn55His
ENST00000601538.5:c.163A>C	ENSP00000469689.2:p.Asn55His
ENST00000608988.5:c.163A>C	ENSP00000476264.2:p.Asn55His
NM_012309.4:c.163A>C	NP_036441.2:p.Asn55His
XM_005277930.2:c.163A>C	XP_005277987.1:p.Asn55His
XM_006718478.2:c.163A>C	XP_006718541.1:p.Asn55His
XM_011544854.1:c.163A>C	XP_011543156.1:p.Asn55His
XM_011544855.1:c.163A>C	XP_011543157.1:p.Asn55His
XM_011544856.1:c.163A>C	XP_011543158.1:p.Asn55His
XM_011544857.1:c.163A>C	XP_011543159.1:p.Asn55His
XM_011544858.1:c.163A>C	XP_011543160.1:p.Asn55His
XM_017017387.1:c.163A>C	XP_016872876.1:p.Asn55His
XM_017017388.1:c.163A>C	XP_016872877.1:p.Asn55His
XM_017017389.1:c.163A>C	XP_016872878.1:p.Asn55His
NM_012309.5:c.163A>C MANE Select	NP_036441.2:p.Asn55His