Canonical Allele Identifier: CA381676177

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319323G>A (hg19) ; chr11:g.70473218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473218G>A , CM000673.2:g.70473218G>A	GRCh38
NC_000011.9:g.70319323G>A , CM000673.1:g.70319323G>A	GRCh37
NC_000011.8:g.69996971G>A	NCBI36
NG_042866.1:g.656579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3434C>T	ENSP00000345193.7:p.Ser1145Phe
ENST00000412252.6:c.979C>T	ENSP00000414876.2:n.979C>T
ENST00000601538.6:c.5201C>T MANE Select	ENSP00000469689.2:p.Ser1734Phe
ENST00000654939.1:c.2710C>T
ENST00000656230.1:c.4064C>T	ENSP00000499561.1:p.Ser1355Phe
ENST00000659264.1:c.3491C>T	ENSP00000499270.1:p.Ser1164Phe
ENST00000338508.8:c.3437C>T	ENSP00000345193.6:p.Ser1146Phe
ENST00000357171.7:c.*205C>T	ENSP00000349694.4:n.*205C>T
ENST00000409161.5:c.3413C>T	ENSP00000386491.1:p.Ser1138Phe
ENST00000412252.5:c.977C>T
ENST00000423696.6:c.4064C>T	ENSP00000394536.2:p.Ser1355Phe
ENST00000424924.5:c.3038C>T	ENSP00000402944.1:p.Ser1013Phe
ENST00000449833.6:c.3437C>T	ENSP00000399423.3:p.Ser1146Phe
ENST00000601538.5:c.5201C>T	ENSP00000469689.2:p.Ser1734Phe
ENST00000606715.3:n.1953C>T
NM_012309.4:c.5201C>T	NP_036441.2:p.Ser1734Phe
NM_133266.4:c.3437C>T	NP_573573.2:p.Ser1146Phe
NR_110766.1:n.1055C>T
XM_005277930.2:c.5201C>T	XP_005277987.1:p.Ser1734Phe
XM_005277932.2:c.4064C>T	XP_005277989.1:p.Ser1355Phe
XM_006718478.2:c.5171C>T	XP_006718541.1:p.Ser1724Phe
XM_011544854.1:c.5213C>T	XP_011543156.1:p.Ser1738Phe
XM_011544855.1:c.5192C>T	XP_011543157.1:p.Ser1731Phe
XM_011544856.1:c.5186C>T	XP_011543158.1:p.Ser1729Phe
XM_011544857.1:c.5165C>T	XP_011543159.1:p.Ser1722Phe
XM_011544859.1:c.4076C>T	XP_011543161.1:p.Ser1359Phe
XM_005277932.3:c.4064C>T	XP_005277989.1:p.Ser1355Phe
XM_017017387.1:c.5201C>T	XP_016872876.1:p.Ser1734Phe
XM_017017388.1:c.5201C>T	XP_016872877.1:p.Ser1734Phe
XM_017017389.1:c.5174C>T	XP_016872878.1:p.Ser1725Phe
XM_017017390.1:c.3491C>T	XP_016872879.1:p.Ser1164Phe
NM_133266.5:c.3437C>T	NP_573573.2:p.Ser1146Phe
NR_110766.2:n.1056C>T
NM_001379226.1:c.4064C>T	NP_001366155.1:p.Ser1355Phe
NM_012309.5:c.5201C>T MANE Select	NP_036441.2:p.Ser1734Phe