Canonical Allele Identifier: CA381676951

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319544T>A (hg19) ; chr11:g.70473439T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473439T>A , CM000673.2:g.70473439T>A	GRCh38
NC_000011.9:g.70319544T>A , CM000673.1:g.70319544T>A	GRCh37
NC_000011.8:g.69997192T>A	NCBI36
NG_042866.1:g.656358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213A>T	ENSP00000345193.7:p.Arg1071Ser
ENST00000412252.6:c.758A>T	ENSP00000414876.2:p.Glu253Val
ENST00000601538.6:c.4980A>T MANE Select	ENSP00000469689.2:p.Arg1660Ser
ENST00000654939.1:c.2489A>T
ENST00000656230.1:c.3843A>T	ENSP00000499561.1:p.Arg1281Ser
ENST00000659264.1:c.3270A>T	ENSP00000499270.1:p.Arg1090Ser
ENST00000338508.8:c.3216A>T	ENSP00000345193.6:p.Arg1072Ser
ENST00000357171.7:c.719A>T	ENSP00000349694.4:p.Glu240Val
ENST00000409161.5:c.3192A>T	ENSP00000386491.1:p.Arg1064Ser
ENST00000412252.5:c.756A>T
ENST00000423696.6:c.3843A>T	ENSP00000394536.2:p.Arg1281Ser
ENST00000424924.5:c.2817A>T	ENSP00000402944.1:p.Arg939Ser
ENST00000449833.6:c.3216A>T	ENSP00000399423.3:p.Arg1072Ser
ENST00000601538.5:c.4980A>T	ENSP00000469689.2:p.Arg1660Ser
ENST00000606715.3:n.1732A>T
NM_012309.4:c.4980A>T	NP_036441.2:p.Arg1660Ser
NM_133266.4:c.3216A>T	NP_573573.2:p.Arg1072Ser
NR_110766.1:n.834A>T
XM_005277930.2:c.4980A>T	XP_005277987.1:p.Arg1660Ser
XM_005277932.2:c.3843A>T	XP_005277989.1:p.Arg1281Ser
XM_006718478.2:c.4950A>T	XP_006718541.1:p.Arg1650Ser
XM_011544854.1:c.4992A>T	XP_011543156.1:p.Arg1664Ser
XM_011544855.1:c.4971A>T	XP_011543157.1:p.Arg1657Ser
XM_011544856.1:c.4965A>T	XP_011543158.1:p.Arg1655Ser
XM_011544857.1:c.4944A>T	XP_011543159.1:p.Arg1648Ser
XM_011544859.1:c.3855A>T	XP_011543161.1:p.Arg1285Ser
XM_005277932.3:c.3843A>T	XP_005277989.1:p.Arg1281Ser
XM_017017387.1:c.4980A>T	XP_016872876.1:p.Arg1660Ser
XM_017017388.1:c.4980A>T	XP_016872877.1:p.Arg1660Ser
XM_017017389.1:c.4953A>T	XP_016872878.1:p.Arg1651Ser
XM_017017390.1:c.3270A>T	XP_016872879.1:p.Arg1090Ser
NM_133266.5:c.3216A>T	NP_573573.2:p.Arg1072Ser
NR_110766.2:n.835A>T
NM_001379226.1:c.3843A>T	NP_001366155.1:p.Arg1281Ser
NM_012309.5:c.4980A>T MANE Select	NP_036441.2:p.Arg1660Ser