Canonical Allele Identifier: CA381675917

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319270G>T (hg19) ; chr11:g.70473165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473165G>T , CM000673.2:g.70473165G>T	GRCh38
NC_000011.9:g.70319270G>T , CM000673.1:g.70319270G>T	GRCh37
NC_000011.8:g.69996918G>T	NCBI36
NG_042866.1:g.656632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3487C>A	ENSP00000345193.7:p.Leu1163Ile
ENST00000412252.6:c.1032C>A	ENSP00000414876.2:n.1032C>A
ENST00000601538.6:c.5254C>A MANE Select	ENSP00000469689.2:p.Leu1752Ile
ENST00000654939.1:c.2763C>A
ENST00000656230.1:c.4117C>A	ENSP00000499561.1:p.Leu1373Ile
ENST00000659264.1:c.3544C>A	ENSP00000499270.1:p.Leu1182Ile
ENST00000338508.8:c.3490C>A	ENSP00000345193.6:p.Leu1164Ile
ENST00000357171.7:c.*258C>A	ENSP00000349694.4:n.*258C>A
ENST00000409161.5:c.3466C>A	ENSP00000386491.1:p.Leu1156Ile
ENST00000412252.5:c.1030C>A
ENST00000423696.6:c.4117C>A	ENSP00000394536.2:p.Leu1373Ile
ENST00000424924.5:c.3091C>A	ENSP00000402944.1:p.Leu1031Ile
ENST00000449833.6:c.3490C>A	ENSP00000399423.3:p.Leu1164Ile
ENST00000601538.5:c.5254C>A	ENSP00000469689.2:p.Leu1752Ile
ENST00000606715.3:n.2006C>A
NM_012309.4:c.5254C>A	NP_036441.2:p.Leu1752Ile
NM_133266.4:c.3490C>A	NP_573573.2:p.Leu1164Ile
NR_110766.1:n.1108C>A
XM_005277930.2:c.5254C>A	XP_005277987.1:p.Leu1752Ile
XM_005277932.2:c.4117C>A	XP_005277989.1:p.Leu1373Ile
XM_006718478.2:c.5224C>A	XP_006718541.1:p.Leu1742Ile
XM_011544854.1:c.5266C>A	XP_011543156.1:p.Leu1756Ile
XM_011544855.1:c.5245C>A	XP_011543157.1:p.Leu1749Ile
XM_011544856.1:c.5239C>A	XP_011543158.1:p.Leu1747Ile
XM_011544857.1:c.5218C>A	XP_011543159.1:p.Leu1740Ile
XM_011544859.1:c.4129C>A	XP_011543161.1:p.Leu1377Ile
XM_005277932.3:c.4117C>A	XP_005277989.1:p.Leu1373Ile
XM_017017387.1:c.5254C>A	XP_016872876.1:p.Leu1752Ile
XM_017017388.1:c.5254C>A	XP_016872877.1:p.Leu1752Ile
XM_017017389.1:c.5227C>A	XP_016872878.1:p.Leu1743Ile
XM_017017390.1:c.3544C>A	XP_016872879.1:p.Leu1182Ile
NM_133266.5:c.3490C>A	NP_573573.2:p.Leu1164Ile
NR_110766.2:n.1109C>A
NM_001379226.1:c.4117C>A	NP_001366155.1:p.Leu1373Ile
NM_012309.5:c.5254C>A MANE Select	NP_036441.2:p.Leu1752Ile