Canonical Allele Identifier: CA6160790

Gene: SHANK2

Linked Data

• dbSNP Id: rs781823495
• ExAC: 11:70319535 C / T
• gnomAD v2: 11-70319535-C-T
• gnomAD v3: 11-70473430-C-T
• gnomAD v4: 11-70473430-C-T
• MyVariant Identifiers: chr11:g.70319535C>T (hg19) ; chr11:g.70473430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473430C>T , CM000673.2:g.70473430C>T	GRCh38
NC_000011.9:g.70319535C>T , CM000673.1:g.70319535C>T	GRCh37
NC_000011.8:g.69997183C>T	NCBI36
NG_042866.1:g.656367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3222G>A	ENSP00000345193.7:p.Glu1074=
ENST00000412252.6:c.767G>A	ENSP00000414876.2:p.Arg256Lys
ENST00000601538.6:c.4989G>A MANE Select	ENSP00000469689.2:p.Glu1663=
ENST00000654939.1:c.2498G>A
ENST00000656230.1:c.3852G>A	ENSP00000499561.1:p.Glu1284=
ENST00000659264.1:c.3279G>A	ENSP00000499270.1:p.Glu1093=
ENST00000338508.8:c.3225G>A	ENSP00000345193.6:p.Glu1075=
ENST00000357171.7:c.728G>A	ENSP00000349694.4:p.Arg243Lys
ENST00000409161.5:c.3201G>A	ENSP00000386491.1:p.Glu1067=
ENST00000412252.5:c.765G>A
ENST00000423696.6:c.3852G>A	ENSP00000394536.2:p.Glu1284=
ENST00000424924.5:c.2826G>A	ENSP00000402944.1:p.Glu942=
ENST00000449833.6:c.3225G>A	ENSP00000399423.3:p.Glu1075=
ENST00000601538.5:c.4989G>A	ENSP00000469689.2:p.Glu1663=
ENST00000606715.3:n.1741G>A
NM_012309.4:c.4989G>A	NP_036441.2:p.Glu1663=
NM_133266.4:c.3225G>A	NP_573573.2:p.Glu1075=
NR_110766.1:n.843G>A
XM_005277930.2:c.4989G>A	XP_005277987.1:p.Glu1663=
XM_005277932.2:c.3852G>A	XP_005277989.1:p.Glu1284=
XM_006718478.2:c.4959G>A	XP_006718541.1:p.Glu1653=
XM_011544854.1:c.5001G>A	XP_011543156.1:p.Glu1667=
XM_011544855.1:c.4980G>A	XP_011543157.1:p.Glu1660=
XM_011544856.1:c.4974G>A	XP_011543158.1:p.Glu1658=
XM_011544857.1:c.4953G>A	XP_011543159.1:p.Glu1651=
XM_011544859.1:c.3864G>A	XP_011543161.1:p.Glu1288=
XM_005277932.3:c.3852G>A	XP_005277989.1:p.Glu1284=
XM_017017387.1:c.4989G>A	XP_016872876.1:p.Glu1663=
XM_017017388.1:c.4989G>A	XP_016872877.1:p.Glu1663=
XM_017017389.1:c.4962G>A	XP_016872878.1:p.Glu1654=
XM_017017390.1:c.3279G>A	XP_016872879.1:p.Glu1093=
NM_133266.5:c.3225G>A	NP_573573.2:p.Glu1075=
NR_110766.2:n.844G>A
NM_001379226.1:c.3852G>A	NP_001366155.1:p.Glu1284=
NM_012309.5:c.4989G>A MANE Select	NP_036441.2:p.Glu1663=