Canonical Allele Identifier: CA381683448

Gene: SHANK2

Linked Data

• dbSNP Id: rs2058799071
• MyVariant Identifiers: chr11:g.70332173C>T (hg19) ; chr11:g.70486068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486068C>T , CM000673.2:g.70486068C>T	GRCh38
NC_000011.9:g.70332173C>T , CM000673.1:g.70332173C>T	GRCh37
NC_000011.8:g.70009821C>T	NCBI36
NG_042866.1:g.643729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2458G>A	ENSP00000345193.7:p.Glu820Lys
ENST00000412252.6:c.757+4235G>A	ENSP00000414876.2:n.757+4235G>A
ENST00000601538.6:c.4225G>A MANE Select	ENSP00000469689.2:p.Glu1409Lys
ENST00000654939.1:c.1653G>A
ENST00000656230.1:c.3088G>A	ENSP00000499561.1:p.Glu1030Lys
ENST00000659264.1:c.2515G>A	ENSP00000499270.1:p.Glu839Lys
ENST00000338508.8:c.2461G>A	ENSP00000345193.6:p.Glu821Lys
ENST00000357171.7:c.718+4235G>A	ENSP00000349694.4:n.718+4235G>A
ENST00000409161.5:c.2437G>A	ENSP00000386491.1:p.Glu813Lys
ENST00000412252.5:c.755+4235G>A
ENST00000423696.6:c.3088G>A	ENSP00000394536.2:p.Glu1030Lys
ENST00000424924.5:c.2062G>A	ENSP00000402944.1:p.Glu688Lys
ENST00000449833.6:c.2461G>A	ENSP00000399423.3:p.Glu821Lys
ENST00000601538.5:c.4225G>A	ENSP00000469689.2:p.Glu1409Lys
NM_012309.4:c.4225G>A	NP_036441.2:p.Glu1409Lys
NM_133266.4:c.2461G>A	NP_573573.2:p.Glu821Lys
NR_110766.1:n.833+4235G>A
XM_005277930.2:c.4225G>A	XP_005277987.1:p.Glu1409Lys
XM_005277932.2:c.3088G>A	XP_005277989.1:p.Glu1030Lys
XM_006718478.2:c.4195G>A	XP_006718541.1:p.Glu1399Lys
XM_011544854.1:c.4237G>A	XP_011543156.1:p.Glu1413Lys
XM_011544855.1:c.4216G>A	XP_011543157.1:p.Glu1406Lys
XM_011544856.1:c.4210G>A	XP_011543158.1:p.Glu1404Lys
XM_011544857.1:c.4189G>A	XP_011543159.1:p.Glu1397Lys
XM_011544858.1:c.4237G>A	XP_011543160.1:p.Glu1413Lys
XM_011544859.1:c.3100G>A	XP_011543161.1:p.Glu1034Lys
XM_005277932.3:c.3088G>A	XP_005277989.1:p.Glu1030Lys
XM_017017387.1:c.4225G>A	XP_016872876.1:p.Glu1409Lys
XM_017017388.1:c.4225G>A	XP_016872877.1:p.Glu1409Lys
XM_017017389.1:c.4198G>A	XP_016872878.1:p.Glu1400Lys
XM_017017390.1:c.2515G>A	XP_016872879.1:p.Glu839Lys
NM_133266.5:c.2461G>A	NP_573573.2:p.Glu821Lys
NR_110766.2:n.834+4235G>A
NM_001379226.1:c.3088G>A	NP_001366155.1:p.Glu1030Lys
NM_012309.5:c.4225G>A MANE Select	NP_036441.2:p.Glu1409Lys