Canonical Allele Identifier: CA381676278

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319369T>C (hg19) ; chr11:g.70473264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473264T>C , CM000673.2:g.70473264T>C	GRCh38
NC_000011.9:g.70319369T>C , CM000673.1:g.70319369T>C	GRCh37
NC_000011.8:g.69997017T>C	NCBI36
NG_042866.1:g.656533A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3388A>G	ENSP00000345193.7:p.Lys1130Glu
ENST00000412252.6:c.933A>G	ENSP00000414876.2:n.933A>G
ENST00000601538.6:c.5155A>G MANE Select	ENSP00000469689.2:p.Lys1719Glu
ENST00000654939.1:c.2664A>G
ENST00000656230.1:c.4018A>G	ENSP00000499561.1:p.Lys1340Glu
ENST00000659264.1:c.3445A>G	ENSP00000499270.1:p.Lys1149Glu
ENST00000338508.8:c.3391A>G	ENSP00000345193.6:p.Lys1131Glu
ENST00000357171.7:c.*159A>G	ENSP00000349694.4:n.*159A>G
ENST00000409161.5:c.3367A>G	ENSP00000386491.1:p.Lys1123Glu
ENST00000412252.5:c.931A>G
ENST00000423696.6:c.4018A>G	ENSP00000394536.2:p.Lys1340Glu
ENST00000424924.5:c.2992A>G	ENSP00000402944.1:p.Lys998Glu
ENST00000449833.6:c.3391A>G	ENSP00000399423.3:p.Lys1131Glu
ENST00000601538.5:c.5155A>G	ENSP00000469689.2:p.Lys1719Glu
ENST00000606715.3:n.1907A>G
NM_012309.4:c.5155A>G	NP_036441.2:p.Lys1719Glu
NM_133266.4:c.3391A>G	NP_573573.2:p.Lys1131Glu
NR_110766.1:n.1009A>G
XM_005277930.2:c.5155A>G	XP_005277987.1:p.Lys1719Glu
XM_005277932.2:c.4018A>G	XP_005277989.1:p.Lys1340Glu
XM_006718478.2:c.5125A>G	XP_006718541.1:p.Lys1709Glu
XM_011544854.1:c.5167A>G	XP_011543156.1:p.Lys1723Glu
XM_011544855.1:c.5146A>G	XP_011543157.1:p.Lys1716Glu
XM_011544856.1:c.5140A>G	XP_011543158.1:p.Lys1714Glu
XM_011544857.1:c.5119A>G	XP_011543159.1:p.Lys1707Glu
XM_011544859.1:c.4030A>G	XP_011543161.1:p.Lys1344Glu
XM_005277932.3:c.4018A>G	XP_005277989.1:p.Lys1340Glu
XM_017017387.1:c.5155A>G	XP_016872876.1:p.Lys1719Glu
XM_017017388.1:c.5155A>G	XP_016872877.1:p.Lys1719Glu
XM_017017389.1:c.5128A>G	XP_016872878.1:p.Lys1710Glu
XM_017017390.1:c.3445A>G	XP_016872879.1:p.Lys1149Glu
NM_133266.5:c.3391A>G	NP_573573.2:p.Lys1131Glu
NR_110766.2:n.1010A>G
NM_001379226.1:c.4018A>G	NP_001366155.1:p.Lys1340Glu
NM_012309.5:c.5155A>G MANE Select	NP_036441.2:p.Lys1719Glu