Canonical Allele Identifier: CA475470625

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319322A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473217A>T , CM000673.2:g.70473217A>T	GRCh38
NC_000011.9:g.70319322A>T , CM000673.1:g.70319322A>T	GRCh37
NC_000011.8:g.69996970A>T	NCBI36
NG_042866.1:g.656580T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3435T>A	ENSP00000345193.7:p.Ser1145=
ENST00000412252.6:c.980T>A	ENSP00000414876.2:n.980T>A
ENST00000601538.6:c.5202T>A MANE Select	ENSP00000469689.2:p.Ser1734=
ENST00000654939.1:c.2711T>A
ENST00000656230.1:c.4065T>A	ENSP00000499561.1:p.Ser1355=
ENST00000659264.1:c.3492T>A	ENSP00000499270.1:p.Ser1164=
ENST00000338508.8:c.3438T>A	ENSP00000345193.6:p.Ser1146=
ENST00000357171.7:c.*206T>A	ENSP00000349694.4:n.*206T>A
ENST00000409161.5:c.3414T>A	ENSP00000386491.1:p.Ser1138=
ENST00000412252.5:c.978T>A
ENST00000423696.6:c.4065T>A	ENSP00000394536.2:p.Ser1355=
ENST00000424924.5:c.3039T>A	ENSP00000402944.1:p.Ser1013=
ENST00000449833.6:c.3438T>A	ENSP00000399423.3:p.Ser1146=
ENST00000601538.5:c.5202T>A	ENSP00000469689.2:p.Ser1734=
ENST00000606715.3:n.1954T>A
NM_012309.4:c.5202T>A	NP_036441.2:p.Ser1734=
NM_133266.4:c.3438T>A	NP_573573.2:p.Ser1146=
NR_110766.1:n.1056T>A
XM_005277930.2:c.5202T>A	XP_005277987.1:p.Ser1734=
XM_005277932.2:c.4065T>A	XP_005277989.1:p.Ser1355=
XM_006718478.2:c.5172T>A	XP_006718541.1:p.Ser1724=
XM_011544854.1:c.5214T>A	XP_011543156.1:p.Ser1738=
XM_011544855.1:c.5193T>A	XP_011543157.1:p.Ser1731=
XM_011544856.1:c.5187T>A	XP_011543158.1:p.Ser1729=
XM_011544857.1:c.5166T>A	XP_011543159.1:p.Ser1722=
XM_011544859.1:c.4077T>A	XP_011543161.1:p.Ser1359=
XM_005277932.3:c.4065T>A	XP_005277989.1:p.Ser1355=
XM_017017387.1:c.5202T>A	XP_016872876.1:p.Ser1734=
XM_017017388.1:c.5202T>A	XP_016872877.1:p.Ser1734=
XM_017017389.1:c.5175T>A	XP_016872878.1:p.Ser1725=
XM_017017390.1:c.3492T>A	XP_016872879.1:p.Ser1164=
NM_133266.5:c.3438T>A	NP_573573.2:p.Ser1146=
NR_110766.2:n.1057T>A
NM_001379226.1:c.4065T>A	NP_001366155.1:p.Ser1355=
NM_012309.5:c.5202T>A MANE Select	NP_036441.2:p.Ser1734=