Canonical Allele Identifier: CA6160728

Gene: SHANK2

Linked Data

• dbSNP Id: rs782728354
• ExAC: 11:70319244 G / A
• gnomAD v2: 11-70319244-G-A
• gnomAD v4: 11-70473139-G-A
• MyVariant Identifiers: chr11:g.70319244G>A (hg19) ; chr11:g.70473139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473139G>A , CM000673.2:g.70473139G>A	GRCh38
NC_000011.9:g.70319244G>A , CM000673.1:g.70319244G>A	GRCh37
NC_000011.8:g.69996892G>A	NCBI36
NG_042866.1:g.656658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3513C>T	ENSP00000345193.7:p.Arg1171=
ENST00000412252.6:c.1058C>T	ENSP00000414876.2:n.1058C>T
ENST00000601538.6:c.5280C>T MANE Select	ENSP00000469689.2:p.Arg1760=
ENST00000654939.1:c.2789C>T
ENST00000656230.1:c.4143C>T	ENSP00000499561.1:p.Arg1381=
ENST00000659264.1:c.3570C>T	ENSP00000499270.1:p.Arg1190=
ENST00000338508.8:c.3516C>T	ENSP00000345193.6:p.Arg1172=
ENST00000357171.7:c.*284C>T	ENSP00000349694.4:n.*284C>T
ENST00000409161.5:c.3492C>T	ENSP00000386491.1:p.Arg1164=
ENST00000412252.5:c.1056C>T
ENST00000423696.6:c.4143C>T	ENSP00000394536.2:p.Arg1381=
ENST00000424924.5:c.3117C>T	ENSP00000402944.1:p.Arg1039=
ENST00000449833.6:c.3516C>T	ENSP00000399423.3:p.Arg1172=
ENST00000601538.5:c.5280C>T	ENSP00000469689.2:p.Arg1760=
ENST00000606715.3:n.2032C>T
NM_012309.4:c.5280C>T	NP_036441.2:p.Arg1760=
NM_133266.4:c.3516C>T	NP_573573.2:p.Arg1172=
NR_110766.1:n.1134C>T
XM_005277930.2:c.5280C>T	XP_005277987.1:p.Arg1760=
XM_005277932.2:c.4143C>T	XP_005277989.1:p.Arg1381=
XM_006718478.2:c.5250C>T	XP_006718541.1:p.Arg1750=
XM_011544854.1:c.5292C>T	XP_011543156.1:p.Arg1764=
XM_011544855.1:c.5271C>T	XP_011543157.1:p.Arg1757=
XM_011544856.1:c.5265C>T	XP_011543158.1:p.Arg1755=
XM_011544857.1:c.5244C>T	XP_011543159.1:p.Arg1748=
XM_011544859.1:c.4155C>T	XP_011543161.1:p.Arg1385=
XM_005277932.3:c.4143C>T	XP_005277989.1:p.Arg1381=
XM_017017387.1:c.5280C>T	XP_016872876.1:p.Arg1760=
XM_017017388.1:c.5280C>T	XP_016872877.1:p.Arg1760=
XM_017017389.1:c.5253C>T	XP_016872878.1:p.Arg1751=
XM_017017390.1:c.3570C>T	XP_016872879.1:p.Arg1190=
NM_133266.5:c.3516C>T	NP_573573.2:p.Arg1172=
NR_110766.2:n.1135C>T
NM_001379226.1:c.4143C>T	NP_001366155.1:p.Arg1381=
NM_012309.5:c.5280C>T MANE Select	NP_036441.2:p.Arg1760=