Canonical Allele Identifier: CA475471074

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319205G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473100G>A , CM000673.2:g.70473100G>A	GRCh38
NC_000011.9:g.70319205G>A , CM000673.1:g.70319205G>A	GRCh37
NC_000011.8:g.69996853G>A	NCBI36
NG_042866.1:g.656697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3552C>T	ENSP00000345193.7:p.Ile1184=
ENST00000412252.6:c.1097C>T	ENSP00000414876.2:n.1097C>T
ENST00000601538.6:c.5319C>T MANE Select	ENSP00000469689.2:p.Ile1773=
ENST00000654939.1:c.2828C>T
ENST00000656230.1:c.4182C>T	ENSP00000499561.1:p.Ile1394=
ENST00000659264.1:c.3609C>T	ENSP00000499270.1:p.Ile1203=
ENST00000338508.8:c.3555C>T	ENSP00000345193.6:p.Ile1185=
ENST00000357171.7:c.*323C>T	ENSP00000349694.4:n.*323C>T
ENST00000409161.5:c.3531C>T	ENSP00000386491.1:p.Ile1177=
ENST00000412252.5:c.1095C>T
ENST00000423696.6:c.4182C>T	ENSP00000394536.2:p.Ile1394=
ENST00000424924.5:c.3156C>T	ENSP00000402944.1:p.Ile1052=
ENST00000449833.6:c.3555C>T	ENSP00000399423.3:p.Ile1185=
ENST00000601538.5:c.5319C>T	ENSP00000469689.2:p.Ile1773=
ENST00000606715.3:n.2071C>T
NM_012309.4:c.5319C>T	NP_036441.2:p.Ile1773=
NM_133266.4:c.3555C>T	NP_573573.2:p.Ile1185=
NR_110766.1:n.1173C>T
XM_005277930.2:c.5319C>T	XP_005277987.1:p.Ile1773=
XM_005277932.2:c.4182C>T	XP_005277989.1:p.Ile1394=
XM_006718478.2:c.5289C>T	XP_006718541.1:p.Ile1763=
XM_011544854.1:c.5331C>T	XP_011543156.1:p.Ile1777=
XM_011544855.1:c.5310C>T	XP_011543157.1:p.Ile1770=
XM_011544856.1:c.5304C>T	XP_011543158.1:p.Ile1768=
XM_011544857.1:c.5283C>T	XP_011543159.1:p.Ile1761=
XM_011544859.1:c.4194C>T	XP_011543161.1:p.Ile1398=
XM_005277932.3:c.4182C>T	XP_005277989.1:p.Ile1394=
XM_017017387.1:c.5319C>T	XP_016872876.1:p.Ile1773=
XM_017017388.1:c.5319C>T	XP_016872877.1:p.Ile1773=
XM_017017389.1:c.5292C>T	XP_016872878.1:p.Ile1764=
XM_017017390.1:c.3609C>T	XP_016872879.1:p.Ile1203=
NM_133266.5:c.3555C>T	NP_573573.2:p.Ile1185=
NR_110766.2:n.1174C>T
NM_001379226.1:c.4182C>T	NP_001366155.1:p.Ile1394=
NM_012309.5:c.5319C>T MANE Select	NP_036441.2:p.Ile1773=