Canonical Allele Identifier: CA381676904

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319535C>A (hg19) ; chr11:g.70473430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473430C>A , CM000673.2:g.70473430C>A	GRCh38
NC_000011.9:g.70319535C>A , CM000673.1:g.70319535C>A	GRCh37
NC_000011.8:g.69997183C>A	NCBI36
NG_042866.1:g.656367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3222G>T	ENSP00000345193.7:p.Glu1074Asp
ENST00000412252.6:c.767G>T	ENSP00000414876.2:p.Arg256Ile
ENST00000601538.6:c.4989G>T MANE Select	ENSP00000469689.2:p.Glu1663Asp
ENST00000654939.1:c.2498G>T
ENST00000656230.1:c.3852G>T	ENSP00000499561.1:p.Glu1284Asp
ENST00000659264.1:c.3279G>T	ENSP00000499270.1:p.Glu1093Asp
ENST00000338508.8:c.3225G>T	ENSP00000345193.6:p.Glu1075Asp
ENST00000357171.7:c.728G>T	ENSP00000349694.4:p.Arg243Ile
ENST00000409161.5:c.3201G>T	ENSP00000386491.1:p.Glu1067Asp
ENST00000412252.5:c.765G>T
ENST00000423696.6:c.3852G>T	ENSP00000394536.2:p.Glu1284Asp
ENST00000424924.5:c.2826G>T	ENSP00000402944.1:p.Glu942Asp
ENST00000449833.6:c.3225G>T	ENSP00000399423.3:p.Glu1075Asp
ENST00000601538.5:c.4989G>T	ENSP00000469689.2:p.Glu1663Asp
ENST00000606715.3:n.1741G>T
NM_012309.4:c.4989G>T	NP_036441.2:p.Glu1663Asp
NM_133266.4:c.3225G>T	NP_573573.2:p.Glu1075Asp
NR_110766.1:n.843G>T
XM_005277930.2:c.4989G>T	XP_005277987.1:p.Glu1663Asp
XM_005277932.2:c.3852G>T	XP_005277989.1:p.Glu1284Asp
XM_006718478.2:c.4959G>T	XP_006718541.1:p.Glu1653Asp
XM_011544854.1:c.5001G>T	XP_011543156.1:p.Glu1667Asp
XM_011544855.1:c.4980G>T	XP_011543157.1:p.Glu1660Asp
XM_011544856.1:c.4974G>T	XP_011543158.1:p.Glu1658Asp
XM_011544857.1:c.4953G>T	XP_011543159.1:p.Glu1651Asp
XM_011544859.1:c.3864G>T	XP_011543161.1:p.Glu1288Asp
XM_005277932.3:c.3852G>T	XP_005277989.1:p.Glu1284Asp
XM_017017387.1:c.4989G>T	XP_016872876.1:p.Glu1663Asp
XM_017017388.1:c.4989G>T	XP_016872877.1:p.Glu1663Asp
XM_017017389.1:c.4962G>T	XP_016872878.1:p.Glu1654Asp
XM_017017390.1:c.3279G>T	XP_016872879.1:p.Glu1093Asp
NM_133266.5:c.3225G>T	NP_573573.2:p.Glu1075Asp
NR_110766.2:n.844G>T
NM_001379226.1:c.3852G>T	NP_001366155.1:p.Glu1284Asp
NM_012309.5:c.4989G>T MANE Select	NP_036441.2:p.Glu1663Asp