Canonical Allele Identifier: CA475470596

Gene: SHANK2

Linked Data

• dbSNP Id: rs1565516986
• MyVariant Identifiers: chr11:g.70319304G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473199G>T , CM000673.2:g.70473199G>T	GRCh38
NC_000011.9:g.70319304G>T , CM000673.1:g.70319304G>T	GRCh37
NC_000011.8:g.69996952G>T	NCBI36
NG_042866.1:g.656598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3453C>A	ENSP00000345193.7:p.Val1151=
ENST00000412252.6:c.998C>A	ENSP00000414876.2:n.998C>A
ENST00000601538.6:c.5220C>A MANE Select	ENSP00000469689.2:p.Val1740=
ENST00000654939.1:c.2729C>A
ENST00000656230.1:c.4083C>A	ENSP00000499561.1:p.Val1361=
ENST00000659264.1:c.3510C>A	ENSP00000499270.1:p.Val1170=
ENST00000338508.8:c.3456C>A	ENSP00000345193.6:p.Val1152=
ENST00000357171.7:c.*224C>A	ENSP00000349694.4:n.*224C>A
ENST00000409161.5:c.3432C>A	ENSP00000386491.1:p.Val1144=
ENST00000412252.5:c.996C>A
ENST00000423696.6:c.4083C>A	ENSP00000394536.2:p.Val1361=
ENST00000424924.5:c.3057C>A	ENSP00000402944.1:p.Val1019=
ENST00000449833.6:c.3456C>A	ENSP00000399423.3:p.Val1152=
ENST00000601538.5:c.5220C>A	ENSP00000469689.2:p.Val1740=
ENST00000606715.3:n.1972C>A
NM_012309.4:c.5220C>A	NP_036441.2:p.Val1740=
NM_133266.4:c.3456C>A	NP_573573.2:p.Val1152=
NR_110766.1:n.1074C>A
XM_005277930.2:c.5220C>A	XP_005277987.1:p.Val1740=
XM_005277932.2:c.4083C>A	XP_005277989.1:p.Val1361=
XM_006718478.2:c.5190C>A	XP_006718541.1:p.Val1730=
XM_011544854.1:c.5232C>A	XP_011543156.1:p.Val1744=
XM_011544855.1:c.5211C>A	XP_011543157.1:p.Val1737=
XM_011544856.1:c.5205C>A	XP_011543158.1:p.Val1735=
XM_011544857.1:c.5184C>A	XP_011543159.1:p.Val1728=
XM_011544859.1:c.4095C>A	XP_011543161.1:p.Val1365=
XM_005277932.3:c.4083C>A	XP_005277989.1:p.Val1361=
XM_017017387.1:c.5220C>A	XP_016872876.1:p.Val1740=
XM_017017388.1:c.5220C>A	XP_016872877.1:p.Val1740=
XM_017017389.1:c.5193C>A	XP_016872878.1:p.Val1731=
XM_017017390.1:c.3510C>A	XP_016872879.1:p.Val1170=
NM_133266.5:c.3456C>A	NP_573573.2:p.Val1152=
NR_110766.2:n.1075C>A
NM_001379226.1:c.4083C>A	NP_001366155.1:p.Val1361=
NM_012309.5:c.5220C>A MANE Select	NP_036441.2:p.Val1740=