Canonical Allele Identifier: CA475470840

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473405-G-T
• MyVariant Identifiers: chr11:g.70319510G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473405G>T , CM000673.2:g.70473405G>T	GRCh38
NC_000011.9:g.70319510G>T , CM000673.1:g.70319510G>T	GRCh37
NC_000011.8:g.69997158G>T	NCBI36
NG_042866.1:g.656392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3247C>A	ENSP00000345193.7:p.Arg1083=
ENST00000412252.6:c.792C>A	ENSP00000414876.2:n.792C>A
ENST00000601538.6:c.5014C>A MANE Select	ENSP00000469689.2:p.Arg1672=
ENST00000654939.1:c.2523C>A
ENST00000656230.1:c.3877C>A	ENSP00000499561.1:p.Arg1293=
ENST00000659264.1:c.3304C>A	ENSP00000499270.1:p.Arg1102=
ENST00000338508.8:c.3250C>A	ENSP00000345193.6:p.Arg1084=
ENST00000357171.7:c.*18C>A	ENSP00000349694.4:n.*18C>A
ENST00000409161.5:c.3226C>A	ENSP00000386491.1:p.Arg1076=
ENST00000412252.5:c.790C>A
ENST00000423696.6:c.3877C>A	ENSP00000394536.2:p.Arg1293=
ENST00000424924.5:c.2851C>A	ENSP00000402944.1:p.Arg951=
ENST00000449833.6:c.3250C>A	ENSP00000399423.3:p.Arg1084=
ENST00000601538.5:c.5014C>A	ENSP00000469689.2:p.Arg1672=
ENST00000606715.3:n.1766C>A
NM_012309.4:c.5014C>A	NP_036441.2:p.Arg1672=
NM_133266.4:c.3250C>A	NP_573573.2:p.Arg1084=
NR_110766.1:n.868C>A
XM_005277930.2:c.5014C>A	XP_005277987.1:p.Arg1672=
XM_005277932.2:c.3877C>A	XP_005277989.1:p.Arg1293=
XM_006718478.2:c.4984C>A	XP_006718541.1:p.Arg1662=
XM_011544854.1:c.5026C>A	XP_011543156.1:p.Arg1676=
XM_011544855.1:c.5005C>A	XP_011543157.1:p.Arg1669=
XM_011544856.1:c.4999C>A	XP_011543158.1:p.Arg1667=
XM_011544857.1:c.4978C>A	XP_011543159.1:p.Arg1660=
XM_011544859.1:c.3889C>A	XP_011543161.1:p.Arg1297=
XM_005277932.3:c.3877C>A	XP_005277989.1:p.Arg1293=
XM_017017387.1:c.5014C>A	XP_016872876.1:p.Arg1672=
XM_017017388.1:c.5014C>A	XP_016872877.1:p.Arg1672=
XM_017017389.1:c.4987C>A	XP_016872878.1:p.Arg1663=
XM_017017390.1:c.3304C>A	XP_016872879.1:p.Arg1102=
NM_133266.5:c.3250C>A	NP_573573.2:p.Arg1084=
NR_110766.2:n.869C>A
NM_001379226.1:c.3877C>A	NP_001366155.1:p.Arg1293=
NM_012309.5:c.5014C>A MANE Select	NP_036441.2:p.Arg1672=