Canonical Allele Identifier: CA475470794

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319481G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473376G>A , CM000673.2:g.70473376G>A	GRCh38
NC_000011.9:g.70319481G>A , CM000673.1:g.70319481G>A	GRCh37
NC_000011.8:g.69997129G>A	NCBI36
NG_042866.1:g.656421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3276C>T	ENSP00000345193.7:p.Arg1092=
ENST00000412252.6:c.821C>T	ENSP00000414876.2:n.821C>T
ENST00000601538.6:c.5043C>T MANE Select	ENSP00000469689.2:p.Arg1681=
ENST00000654939.1:c.2552C>T
ENST00000656230.1:c.3906C>T	ENSP00000499561.1:p.Arg1302=
ENST00000659264.1:c.3333C>T	ENSP00000499270.1:p.Arg1111=
ENST00000338508.8:c.3279C>T	ENSP00000345193.6:p.Arg1093=
ENST00000357171.7:c.*47C>T	ENSP00000349694.4:n.*47C>T
ENST00000409161.5:c.3255C>T	ENSP00000386491.1:p.Arg1085=
ENST00000412252.5:c.819C>T
ENST00000423696.6:c.3906C>T	ENSP00000394536.2:p.Arg1302=
ENST00000424924.5:c.2880C>T	ENSP00000402944.1:p.Arg960=
ENST00000449833.6:c.3279C>T	ENSP00000399423.3:p.Arg1093=
ENST00000601538.5:c.5043C>T	ENSP00000469689.2:p.Arg1681=
ENST00000606715.3:n.1795C>T
NM_012309.4:c.5043C>T	NP_036441.2:p.Arg1681=
NM_133266.4:c.3279C>T	NP_573573.2:p.Arg1093=
NR_110766.1:n.897C>T
XM_005277930.2:c.5043C>T	XP_005277987.1:p.Arg1681=
XM_005277932.2:c.3906C>T	XP_005277989.1:p.Arg1302=
XM_006718478.2:c.5013C>T	XP_006718541.1:p.Arg1671=
XM_011544854.1:c.5055C>T	XP_011543156.1:p.Arg1685=
XM_011544855.1:c.5034C>T	XP_011543157.1:p.Arg1678=
XM_011544856.1:c.5028C>T	XP_011543158.1:p.Arg1676=
XM_011544857.1:c.5007C>T	XP_011543159.1:p.Arg1669=
XM_011544859.1:c.3918C>T	XP_011543161.1:p.Arg1306=
XM_005277932.3:c.3906C>T	XP_005277989.1:p.Arg1302=
XM_017017387.1:c.5043C>T	XP_016872876.1:p.Arg1681=
XM_017017388.1:c.5043C>T	XP_016872877.1:p.Arg1681=
XM_017017389.1:c.5016C>T	XP_016872878.1:p.Arg1672=
XM_017017390.1:c.3333C>T	XP_016872879.1:p.Arg1111=
NM_133266.5:c.3279C>T	NP_573573.2:p.Arg1093=
NR_110766.2:n.898C>T
NM_001379226.1:c.3906C>T	NP_001366155.1:p.Arg1302=
NM_012309.5:c.5043C>T MANE Select	NP_036441.2:p.Arg1681=