Canonical Allele Identifier: CA475471119

Gene: SHANK2

Linked Data

• dbSNP Id: rs2058615787
• gnomAD v4: 11-70473124-G-T
• MyVariant Identifiers: chr11:g.70319229G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473124G>T , CM000673.2:g.70473124G>T	GRCh38
NC_000011.9:g.70319229G>T , CM000673.1:g.70319229G>T	GRCh37
NC_000011.8:g.69996877G>T	NCBI36
NG_042866.1:g.656673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3528C>A	ENSP00000345193.7:p.Ser1176=
ENST00000412252.6:c.1073C>A	ENSP00000414876.2:n.1073C>A
ENST00000601538.6:c.5295C>A MANE Select	ENSP00000469689.2:p.Ser1765=
ENST00000654939.1:c.2804C>A
ENST00000656230.1:c.4158C>A	ENSP00000499561.1:p.Ser1386=
ENST00000659264.1:c.3585C>A	ENSP00000499270.1:p.Ser1195=
ENST00000338508.8:c.3531C>A	ENSP00000345193.6:p.Ser1177=
ENST00000357171.7:c.*299C>A	ENSP00000349694.4:n.*299C>A
ENST00000409161.5:c.3507C>A	ENSP00000386491.1:p.Ser1169=
ENST00000412252.5:c.1071C>A
ENST00000423696.6:c.4158C>A	ENSP00000394536.2:p.Ser1386=
ENST00000424924.5:c.3132C>A	ENSP00000402944.1:p.Ser1044=
ENST00000449833.6:c.3531C>A	ENSP00000399423.3:p.Ser1177=
ENST00000601538.5:c.5295C>A	ENSP00000469689.2:p.Ser1765=
ENST00000606715.3:n.2047C>A
NM_012309.4:c.5295C>A	NP_036441.2:p.Ser1765=
NM_133266.4:c.3531C>A	NP_573573.2:p.Ser1177=
NR_110766.1:n.1149C>A
XM_005277930.2:c.5295C>A	XP_005277987.1:p.Ser1765=
XM_005277932.2:c.4158C>A	XP_005277989.1:p.Ser1386=
XM_006718478.2:c.5265C>A	XP_006718541.1:p.Ser1755=
XM_011544854.1:c.5307C>A	XP_011543156.1:p.Ser1769=
XM_011544855.1:c.5286C>A	XP_011543157.1:p.Ser1762=
XM_011544856.1:c.5280C>A	XP_011543158.1:p.Ser1760=
XM_011544857.1:c.5259C>A	XP_011543159.1:p.Ser1753=
XM_011544859.1:c.4170C>A	XP_011543161.1:p.Ser1390=
XM_005277932.3:c.4158C>A	XP_005277989.1:p.Ser1386=
XM_017017387.1:c.5295C>A	XP_016872876.1:p.Ser1765=
XM_017017388.1:c.5295C>A	XP_016872877.1:p.Ser1765=
XM_017017389.1:c.5268C>A	XP_016872878.1:p.Ser1756=
XM_017017390.1:c.3585C>A	XP_016872879.1:p.Ser1195=
NM_133266.5:c.3531C>A	NP_573573.2:p.Ser1177=
NR_110766.2:n.1150C>A
NM_001379226.1:c.4158C>A	NP_001366155.1:p.Ser1386=
NM_012309.5:c.5295C>A MANE Select	NP_036441.2:p.Ser1765=