Canonical Allele Identifier: CA381961189

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70858215T>C (hg19) ; chr11:g.71147169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71147169T>C , CM000673.2:g.71147169T>C	GRCh38
NC_000011.9:g.70858215T>C , CM000673.1:g.70858215T>C	GRCh37
NC_000011.8:g.70535863T>C	NCBI36
NG_042866.1:g.82628A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000601538.6:c.158A>G MANE Select	ENSP00000469689.2:p.Gln53Arg
ENST00000601538.5:c.158A>G	ENSP00000469689.2:p.Gln53Arg
ENST00000608988.5:c.158A>G	ENSP00000476264.2:p.Gln53Arg
NM_012309.4:c.158A>G	NP_036441.2:p.Gln53Arg
XM_005277930.2:c.158A>G	XP_005277987.1:p.Gln53Arg
XM_006718478.2:c.158A>G	XP_006718541.1:p.Gln53Arg
XM_011544854.1:c.158A>G	XP_011543156.1:p.Gln53Arg
XM_011544855.1:c.158A>G	XP_011543157.1:p.Gln53Arg
XM_011544856.1:c.158A>G	XP_011543158.1:p.Gln53Arg
XM_011544857.1:c.158A>G	XP_011543159.1:p.Gln53Arg
XM_011544858.1:c.158A>G	XP_011543160.1:p.Gln53Arg
XM_017017387.1:c.158A>G	XP_016872876.1:p.Gln53Arg
XM_017017388.1:c.158A>G	XP_016872877.1:p.Gln53Arg
XM_017017389.1:c.158A>G	XP_016872878.1:p.Gln53Arg
NM_012309.5:c.158A>G MANE Select	NP_036441.2:p.Gln53Arg