Canonical Allele Identifier: CA475471159

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319256G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473151G>A , CM000673.2:g.70473151G>A	GRCh38
NC_000011.9:g.70319256G>A , CM000673.1:g.70319256G>A	GRCh37
NC_000011.8:g.69996904G>A	NCBI36
NG_042866.1:g.656646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3501C>T	ENSP00000345193.7:p.Asn1167=
ENST00000412252.6:c.1046C>T	ENSP00000414876.2:n.1046C>T
ENST00000601538.6:c.5268C>T MANE Select	ENSP00000469689.2:p.Asn1756=
ENST00000654939.1:c.2777C>T
ENST00000656230.1:c.4131C>T	ENSP00000499561.1:p.Asn1377=
ENST00000659264.1:c.3558C>T	ENSP00000499270.1:p.Asn1186=
ENST00000338508.8:c.3504C>T	ENSP00000345193.6:p.Asn1168=
ENST00000357171.7:c.*272C>T	ENSP00000349694.4:n.*272C>T
ENST00000409161.5:c.3480C>T	ENSP00000386491.1:p.Asn1160=
ENST00000412252.5:c.1044C>T
ENST00000423696.6:c.4131C>T	ENSP00000394536.2:p.Asn1377=
ENST00000424924.5:c.3105C>T	ENSP00000402944.1:p.Asn1035=
ENST00000449833.6:c.3504C>T	ENSP00000399423.3:p.Asn1168=
ENST00000601538.5:c.5268C>T	ENSP00000469689.2:p.Asn1756=
ENST00000606715.3:n.2020C>T
NM_012309.4:c.5268C>T	NP_036441.2:p.Asn1756=
NM_133266.4:c.3504C>T	NP_573573.2:p.Asn1168=
NR_110766.1:n.1122C>T
XM_005277930.2:c.5268C>T	XP_005277987.1:p.Asn1756=
XM_005277932.2:c.4131C>T	XP_005277989.1:p.Asn1377=
XM_006718478.2:c.5238C>T	XP_006718541.1:p.Asn1746=
XM_011544854.1:c.5280C>T	XP_011543156.1:p.Asn1760=
XM_011544855.1:c.5259C>T	XP_011543157.1:p.Asn1753=
XM_011544856.1:c.5253C>T	XP_011543158.1:p.Asn1751=
XM_011544857.1:c.5232C>T	XP_011543159.1:p.Asn1744=
XM_011544859.1:c.4143C>T	XP_011543161.1:p.Asn1381=
XM_005277932.3:c.4131C>T	XP_005277989.1:p.Asn1377=
XM_017017387.1:c.5268C>T	XP_016872876.1:p.Asn1756=
XM_017017388.1:c.5268C>T	XP_016872877.1:p.Asn1756=
XM_017017389.1:c.5241C>T	XP_016872878.1:p.Asn1747=
XM_017017390.1:c.3558C>T	XP_016872879.1:p.Asn1186=
NM_133266.5:c.3504C>T	NP_573573.2:p.Asn1168=
NR_110766.2:n.1123C>T
NM_001379226.1:c.4131C>T	NP_001366155.1:p.Asn1377=
NM_012309.5:c.5268C>T MANE Select	NP_036441.2:p.Asn1756=