Canonical Allele Identifier: CA223591866

Gene: SHANK2

Linked Data

• dbSNP Id: rs931918721
• MyVariant Identifiers: chr11:g.70319453G>T (hg19) ; chr11:g.70473348G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473348G>T , CM000673.2:g.70473348G>T	GRCh38
NC_000011.9:g.70319453G>T , CM000673.1:g.70319453G>T	GRCh37
NC_000011.8:g.69997101G>T	NCBI36
NG_042866.1:g.656449C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3304C>A	ENSP00000345193.7:p.Gln1102Lys
ENST00000412252.6:c.849C>A	ENSP00000414876.2:n.849C>A
ENST00000601538.6:c.5071C>A MANE Select	ENSP00000469689.2:p.Gln1691Lys
ENST00000654939.1:c.2580C>A
ENST00000656230.1:c.3934C>A	ENSP00000499561.1:p.Gln1312Lys
ENST00000659264.1:c.3361C>A	ENSP00000499270.1:p.Gln1121Lys
ENST00000338508.8:c.3307C>A	ENSP00000345193.6:p.Gln1103Lys
ENST00000357171.7:c.*75C>A	ENSP00000349694.4:n.*75C>A
ENST00000409161.5:c.3283C>A	ENSP00000386491.1:p.Gln1095Lys
ENST00000412252.5:c.847C>A
ENST00000423696.6:c.3934C>A	ENSP00000394536.2:p.Gln1312Lys
ENST00000424924.5:c.2908C>A	ENSP00000402944.1:p.Gln970Lys
ENST00000449833.6:c.3307C>A	ENSP00000399423.3:p.Gln1103Lys
ENST00000601538.5:c.5071C>A	ENSP00000469689.2:p.Gln1691Lys
ENST00000606715.3:n.1823C>A
NM_012309.4:c.5071C>A	NP_036441.2:p.Gln1691Lys
NM_133266.4:c.3307C>A	NP_573573.2:p.Gln1103Lys
NR_110766.1:n.925C>A
XM_005277930.2:c.5071C>A	XP_005277987.1:p.Gln1691Lys
XM_005277932.2:c.3934C>A	XP_005277989.1:p.Gln1312Lys
XM_006718478.2:c.5041C>A	XP_006718541.1:p.Gln1681Lys
XM_011544854.1:c.5083C>A	XP_011543156.1:p.Gln1695Lys
XM_011544855.1:c.5062C>A	XP_011543157.1:p.Gln1688Lys
XM_011544856.1:c.5056C>A	XP_011543158.1:p.Gln1686Lys
XM_011544857.1:c.5035C>A	XP_011543159.1:p.Gln1679Lys
XM_011544859.1:c.3946C>A	XP_011543161.1:p.Gln1316Lys
XM_005277932.3:c.3934C>A	XP_005277989.1:p.Gln1312Lys
XM_017017387.1:c.5071C>A	XP_016872876.1:p.Gln1691Lys
XM_017017388.1:c.5071C>A	XP_016872877.1:p.Gln1691Lys
XM_017017389.1:c.5044C>A	XP_016872878.1:p.Gln1682Lys
XM_017017390.1:c.3361C>A	XP_016872879.1:p.Gln1121Lys
NM_133266.5:c.3307C>A	NP_573573.2:p.Gln1103Lys
NR_110766.2:n.926C>A
NM_001379226.1:c.3934C>A	NP_001366155.1:p.Gln1312Lys
NM_012309.5:c.5071C>A MANE Select	NP_036441.2:p.Gln1691Lys