Canonical Allele Identifier: CA6162175

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 305928
• ClinVar RCV Id: RCV000311122 ; RCV002520759
• dbSNP Id: rs201642016
• ExAC: 11:70858237 C / T
• gnomAD v2: 11-70858237-C-T
• gnomAD v3: 11-71147191-C-T
• gnomAD v4: 11-71147191-C-T
• MyVariant Identifiers: chr11:g.70858237C>T (hg19) ; chr11:g.71147191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71147191C>T , CM000673.2:g.71147191C>T	GRCh38
NC_000011.9:g.70858237C>T , CM000673.1:g.70858237C>T	GRCh37
NC_000011.8:g.70535885C>T	NCBI36
NG_042866.1:g.82606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601538.6:c.136G>A MANE Select	ENSP00000469689.2:p.Gly46Ser
ENST00000601538.5:c.136G>A	ENSP00000469689.2:p.Gly46Ser
ENST00000608988.5:c.136G>A	ENSP00000476264.2:p.Gly46Ser
NM_012309.4:c.136G>A	NP_036441.2:p.Gly46Ser
XM_005277930.2:c.136G>A	XP_005277987.1:p.Gly46Ser
XM_006718478.2:c.136G>A	XP_006718541.1:p.Gly46Ser
XM_011544854.1:c.136G>A	XP_011543156.1:p.Gly46Ser
XM_011544855.1:c.136G>A	XP_011543157.1:p.Gly46Ser
XM_011544856.1:c.136G>A	XP_011543158.1:p.Gly46Ser
XM_011544857.1:c.136G>A	XP_011543159.1:p.Gly46Ser
XM_011544858.1:c.136G>A	XP_011543160.1:p.Gly46Ser
XM_017017387.1:c.136G>A	XP_016872876.1:p.Gly46Ser
XM_017017388.1:c.136G>A	XP_016872877.1:p.Gly46Ser
XM_017017389.1:c.136G>A	XP_016872878.1:p.Gly46Ser
NM_012309.5:c.136G>A MANE Select	NP_036441.2:p.Gly46Ser