Canonical Allele Identifier: CA475470836

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319508C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473403C>T , CM000673.2:g.70473403C>T	GRCh38
NC_000011.9:g.70319508C>T , CM000673.1:g.70319508C>T	GRCh37
NC_000011.8:g.69997156C>T	NCBI36
NG_042866.1:g.656394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3249G>A	ENSP00000345193.7:p.Arg1083=
ENST00000412252.6:c.794G>A	ENSP00000414876.2:n.794G>A
ENST00000601538.6:c.5016G>A MANE Select	ENSP00000469689.2:p.Arg1672=
ENST00000654939.1:c.2525G>A
ENST00000656230.1:c.3879G>A	ENSP00000499561.1:p.Arg1293=
ENST00000659264.1:c.3306G>A	ENSP00000499270.1:p.Arg1102=
ENST00000338508.8:c.3252G>A	ENSP00000345193.6:p.Arg1084=
ENST00000357171.7:c.*20G>A	ENSP00000349694.4:n.*20G>A
ENST00000409161.5:c.3228G>A	ENSP00000386491.1:p.Arg1076=
ENST00000412252.5:c.792G>A
ENST00000423696.6:c.3879G>A	ENSP00000394536.2:p.Arg1293=
ENST00000424924.5:c.2853G>A	ENSP00000402944.1:p.Arg951=
ENST00000449833.6:c.3252G>A	ENSP00000399423.3:p.Arg1084=
ENST00000601538.5:c.5016G>A	ENSP00000469689.2:p.Arg1672=
ENST00000606715.3:n.1768G>A
NM_012309.4:c.5016G>A	NP_036441.2:p.Arg1672=
NM_133266.4:c.3252G>A	NP_573573.2:p.Arg1084=
NR_110766.1:n.870G>A
XM_005277930.2:c.5016G>A	XP_005277987.1:p.Arg1672=
XM_005277932.2:c.3879G>A	XP_005277989.1:p.Arg1293=
XM_006718478.2:c.4986G>A	XP_006718541.1:p.Arg1662=
XM_011544854.1:c.5028G>A	XP_011543156.1:p.Arg1676=
XM_011544855.1:c.5007G>A	XP_011543157.1:p.Arg1669=
XM_011544856.1:c.5001G>A	XP_011543158.1:p.Arg1667=
XM_011544857.1:c.4980G>A	XP_011543159.1:p.Arg1660=
XM_011544859.1:c.3891G>A	XP_011543161.1:p.Arg1297=
XM_005277932.3:c.3879G>A	XP_005277989.1:p.Arg1293=
XM_017017387.1:c.5016G>A	XP_016872876.1:p.Arg1672=
XM_017017388.1:c.5016G>A	XP_016872877.1:p.Arg1672=
XM_017017389.1:c.4989G>A	XP_016872878.1:p.Arg1663=
XM_017017390.1:c.3306G>A	XP_016872879.1:p.Arg1102=
NM_133266.5:c.3252G>A	NP_573573.2:p.Arg1084=
NR_110766.2:n.871G>A
NM_001379226.1:c.3879G>A	NP_001366155.1:p.Arg1293=
NM_012309.5:c.5016G>A MANE Select	NP_036441.2:p.Arg1672=