Canonical Allele Identifier: CA475471100

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319220T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473115T>G , CM000673.2:g.70473115T>G	GRCh38
NC_000011.9:g.70319220T>G , CM000673.1:g.70319220T>G	GRCh37
NC_000011.8:g.69996868T>G	NCBI36
NG_042866.1:g.656682A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3537A>C	ENSP00000345193.7:p.Ile1179=
ENST00000412252.6:c.1082A>C	ENSP00000414876.2:n.1082A>C
ENST00000601538.6:c.5304A>C MANE Select	ENSP00000469689.2:p.Ile1768=
ENST00000654939.1:c.2813A>C
ENST00000656230.1:c.4167A>C	ENSP00000499561.1:p.Ile1389=
ENST00000659264.1:c.3594A>C	ENSP00000499270.1:p.Ile1198=
ENST00000338508.8:c.3540A>C	ENSP00000345193.6:p.Ile1180=
ENST00000357171.7:c.*308A>C	ENSP00000349694.4:n.*308A>C
ENST00000409161.5:c.3516A>C	ENSP00000386491.1:p.Ile1172=
ENST00000412252.5:c.1080A>C
ENST00000423696.6:c.4167A>C	ENSP00000394536.2:p.Ile1389=
ENST00000424924.5:c.3141A>C	ENSP00000402944.1:p.Ile1047=
ENST00000449833.6:c.3540A>C	ENSP00000399423.3:p.Ile1180=
ENST00000601538.5:c.5304A>C	ENSP00000469689.2:p.Ile1768=
ENST00000606715.3:n.2056A>C
NM_012309.4:c.5304A>C	NP_036441.2:p.Ile1768=
NM_133266.4:c.3540A>C	NP_573573.2:p.Ile1180=
NR_110766.1:n.1158A>C
XM_005277930.2:c.5304A>C	XP_005277987.1:p.Ile1768=
XM_005277932.2:c.4167A>C	XP_005277989.1:p.Ile1389=
XM_006718478.2:c.5274A>C	XP_006718541.1:p.Ile1758=
XM_011544854.1:c.5316A>C	XP_011543156.1:p.Ile1772=
XM_011544855.1:c.5295A>C	XP_011543157.1:p.Ile1765=
XM_011544856.1:c.5289A>C	XP_011543158.1:p.Ile1763=
XM_011544857.1:c.5268A>C	XP_011543159.1:p.Ile1756=
XM_011544859.1:c.4179A>C	XP_011543161.1:p.Ile1393=
XM_005277932.3:c.4167A>C	XP_005277989.1:p.Ile1389=
XM_017017387.1:c.5304A>C	XP_016872876.1:p.Ile1768=
XM_017017388.1:c.5304A>C	XP_016872877.1:p.Ile1768=
XM_017017389.1:c.5277A>C	XP_016872878.1:p.Ile1759=
XM_017017390.1:c.3594A>C	XP_016872879.1:p.Ile1198=
NM_133266.5:c.3540A>C	NP_573573.2:p.Ile1180=
NR_110766.2:n.1159A>C
NM_001379226.1:c.4167A>C	NP_001366155.1:p.Ile1389=
NM_012309.5:c.5304A>C MANE Select	NP_036441.2:p.Ile1768=