Canonical Allele Identifier: CA381676269

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319365T>G (hg19) ; chr11:g.70473260T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473260T>G , CM000673.2:g.70473260T>G	GRCh38
NC_000011.9:g.70319365T>G , CM000673.1:g.70319365T>G	GRCh37
NC_000011.8:g.69997013T>G	NCBI36
NG_042866.1:g.656537A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3392A>C	ENSP00000345193.7:p.Glu1131Ala
ENST00000412252.6:c.937A>C	ENSP00000414876.2:n.937A>C
ENST00000601538.6:c.5159A>C MANE Select	ENSP00000469689.2:p.Glu1720Ala
ENST00000654939.1:c.2668A>C
ENST00000656230.1:c.4022A>C	ENSP00000499561.1:p.Glu1341Ala
ENST00000659264.1:c.3449A>C	ENSP00000499270.1:p.Glu1150Ala
ENST00000338508.8:c.3395A>C	ENSP00000345193.6:p.Glu1132Ala
ENST00000357171.7:c.*163A>C	ENSP00000349694.4:n.*163A>C
ENST00000409161.5:c.3371A>C	ENSP00000386491.1:p.Glu1124Ala
ENST00000412252.5:c.935A>C
ENST00000423696.6:c.4022A>C	ENSP00000394536.2:p.Glu1341Ala
ENST00000424924.5:c.2996A>C	ENSP00000402944.1:p.Glu999Ala
ENST00000449833.6:c.3395A>C	ENSP00000399423.3:p.Glu1132Ala
ENST00000601538.5:c.5159A>C	ENSP00000469689.2:p.Glu1720Ala
ENST00000606715.3:n.1911A>C
NM_012309.4:c.5159A>C	NP_036441.2:p.Glu1720Ala
NM_133266.4:c.3395A>C	NP_573573.2:p.Glu1132Ala
NR_110766.1:n.1013A>C
XM_005277930.2:c.5159A>C	XP_005277987.1:p.Glu1720Ala
XM_005277932.2:c.4022A>C	XP_005277989.1:p.Glu1341Ala
XM_006718478.2:c.5129A>C	XP_006718541.1:p.Glu1710Ala
XM_011544854.1:c.5171A>C	XP_011543156.1:p.Glu1724Ala
XM_011544855.1:c.5150A>C	XP_011543157.1:p.Glu1717Ala
XM_011544856.1:c.5144A>C	XP_011543158.1:p.Glu1715Ala
XM_011544857.1:c.5123A>C	XP_011543159.1:p.Glu1708Ala
XM_011544859.1:c.4034A>C	XP_011543161.1:p.Glu1345Ala
XM_005277932.3:c.4022A>C	XP_005277989.1:p.Glu1341Ala
XM_017017387.1:c.5159A>C	XP_016872876.1:p.Glu1720Ala
XM_017017388.1:c.5159A>C	XP_016872877.1:p.Glu1720Ala
XM_017017389.1:c.5132A>C	XP_016872878.1:p.Glu1711Ala
XM_017017390.1:c.3449A>C	XP_016872879.1:p.Glu1150Ala
NM_133266.5:c.3395A>C	NP_573573.2:p.Glu1132Ala
NR_110766.2:n.1014A>C
NM_001379226.1:c.4022A>C	NP_001366155.1:p.Glu1341Ala
NM_012309.5:c.5159A>C MANE Select	NP_036441.2:p.Glu1720Ala