Canonical Allele Identifier: CA381676908

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319536T>G (hg19) ; chr11:g.70473431T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473431T>G , CM000673.2:g.70473431T>G	GRCh38
NC_000011.9:g.70319536T>G , CM000673.1:g.70319536T>G	GRCh37
NC_000011.8:g.69997184T>G	NCBI36
NG_042866.1:g.656366A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3221A>C	ENSP00000345193.7:p.Glu1074Ala
ENST00000412252.6:c.766A>C	ENSP00000414876.2:p.Arg256=
ENST00000601538.6:c.4988A>C MANE Select	ENSP00000469689.2:p.Glu1663Ala
ENST00000654939.1:c.2497A>C
ENST00000656230.1:c.3851A>C	ENSP00000499561.1:p.Glu1284Ala
ENST00000659264.1:c.3278A>C	ENSP00000499270.1:p.Glu1093Ala
ENST00000338508.8:c.3224A>C	ENSP00000345193.6:p.Glu1075Ala
ENST00000357171.7:c.727A>C	ENSP00000349694.4:p.Arg243=
ENST00000409161.5:c.3200A>C	ENSP00000386491.1:p.Glu1067Ala
ENST00000412252.5:c.764A>C
ENST00000423696.6:c.3851A>C	ENSP00000394536.2:p.Glu1284Ala
ENST00000424924.5:c.2825A>C	ENSP00000402944.1:p.Glu942Ala
ENST00000449833.6:c.3224A>C	ENSP00000399423.3:p.Glu1075Ala
ENST00000601538.5:c.4988A>C	ENSP00000469689.2:p.Glu1663Ala
ENST00000606715.3:n.1740A>C
NM_012309.4:c.4988A>C	NP_036441.2:p.Glu1663Ala
NM_133266.4:c.3224A>C	NP_573573.2:p.Glu1075Ala
NR_110766.1:n.842A>C
XM_005277930.2:c.4988A>C	XP_005277987.1:p.Glu1663Ala
XM_005277932.2:c.3851A>C	XP_005277989.1:p.Glu1284Ala
XM_006718478.2:c.4958A>C	XP_006718541.1:p.Glu1653Ala
XM_011544854.1:c.5000A>C	XP_011543156.1:p.Glu1667Ala
XM_011544855.1:c.4979A>C	XP_011543157.1:p.Glu1660Ala
XM_011544856.1:c.4973A>C	XP_011543158.1:p.Glu1658Ala
XM_011544857.1:c.4952A>C	XP_011543159.1:p.Glu1651Ala
XM_011544859.1:c.3863A>C	XP_011543161.1:p.Glu1288Ala
XM_005277932.3:c.3851A>C	XP_005277989.1:p.Glu1284Ala
XM_017017387.1:c.4988A>C	XP_016872876.1:p.Glu1663Ala
XM_017017388.1:c.4988A>C	XP_016872877.1:p.Glu1663Ala
XM_017017389.1:c.4961A>C	XP_016872878.1:p.Glu1654Ala
XM_017017390.1:c.3278A>C	XP_016872879.1:p.Glu1093Ala
NM_133266.5:c.3224A>C	NP_573573.2:p.Glu1075Ala
NR_110766.2:n.843A>C
NM_001379226.1:c.3851A>C	NP_001366155.1:p.Glu1284Ala
NM_012309.5:c.4988A>C MANE Select	NP_036441.2:p.Glu1663Ala