Canonical Allele Identifier: CA381676914

Gene: SHANK2

Linked Data

• dbSNP Id: rs2058623010
• MyVariant Identifiers: chr11:g.70319537C>T (hg19) ; chr11:g.70473432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473432C>T , CM000673.2:g.70473432C>T	GRCh38
NC_000011.9:g.70319537C>T , CM000673.1:g.70319537C>T	GRCh37
NC_000011.8:g.69997185C>T	NCBI36
NG_042866.1:g.656365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3220G>A	ENSP00000345193.7:p.Glu1074Lys
ENST00000412252.6:c.765G>A	ENSP00000414876.2:p.Arg255=
ENST00000601538.6:c.4987G>A MANE Select	ENSP00000469689.2:p.Glu1663Lys
ENST00000654939.1:c.2496G>A
ENST00000656230.1:c.3850G>A	ENSP00000499561.1:p.Glu1284Lys
ENST00000659264.1:c.3277G>A	ENSP00000499270.1:p.Glu1093Lys
ENST00000338508.8:c.3223G>A	ENSP00000345193.6:p.Glu1075Lys
ENST00000357171.7:c.726G>A	ENSP00000349694.4:p.Arg242=
ENST00000409161.5:c.3199G>A	ENSP00000386491.1:p.Glu1067Lys
ENST00000412252.5:c.763G>A
ENST00000423696.6:c.3850G>A	ENSP00000394536.2:p.Glu1284Lys
ENST00000424924.5:c.2824G>A	ENSP00000402944.1:p.Glu942Lys
ENST00000449833.6:c.3223G>A	ENSP00000399423.3:p.Glu1075Lys
ENST00000601538.5:c.4987G>A	ENSP00000469689.2:p.Glu1663Lys
ENST00000606715.3:n.1739G>A
NM_012309.4:c.4987G>A	NP_036441.2:p.Glu1663Lys
NM_133266.4:c.3223G>A	NP_573573.2:p.Glu1075Lys
NR_110766.1:n.841G>A
XM_005277930.2:c.4987G>A	XP_005277987.1:p.Glu1663Lys
XM_005277932.2:c.3850G>A	XP_005277989.1:p.Glu1284Lys
XM_006718478.2:c.4957G>A	XP_006718541.1:p.Glu1653Lys
XM_011544854.1:c.4999G>A	XP_011543156.1:p.Glu1667Lys
XM_011544855.1:c.4978G>A	XP_011543157.1:p.Glu1660Lys
XM_011544856.1:c.4972G>A	XP_011543158.1:p.Glu1658Lys
XM_011544857.1:c.4951G>A	XP_011543159.1:p.Glu1651Lys
XM_011544859.1:c.3862G>A	XP_011543161.1:p.Glu1288Lys
XM_005277932.3:c.3850G>A	XP_005277989.1:p.Glu1284Lys
XM_017017387.1:c.4987G>A	XP_016872876.1:p.Glu1663Lys
XM_017017388.1:c.4987G>A	XP_016872877.1:p.Glu1663Lys
XM_017017389.1:c.4960G>A	XP_016872878.1:p.Glu1654Lys
XM_017017390.1:c.3277G>A	XP_016872879.1:p.Glu1093Lys
NM_133266.5:c.3223G>A	NP_573573.2:p.Glu1075Lys
NR_110766.2:n.842G>A
NM_001379226.1:c.3850G>A	NP_001366155.1:p.Glu1284Lys
NM_012309.5:c.4987G>A MANE Select	NP_036441.2:p.Glu1663Lys