Canonical Allele Identifier: CA6160768

Gene: SHANK2

Linked Data

• dbSNP Id: rs370486550
• ExAC: 11:70319408 G / T
• gnomAD v2: 11-70319408-G-T
• gnomAD v4: 11-70473303-G-T
• MyVariant Identifiers: chr11:g.70319408G>T (hg19) ; chr11:g.70473303G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473303G>T , CM000673.2:g.70473303G>T	GRCh38
NC_000011.9:g.70319408G>T , CM000673.1:g.70319408G>T	GRCh37
NC_000011.8:g.69997056G>T	NCBI36
NG_042866.1:g.656494C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3349C>A	ENSP00000345193.7:p.Arg1117Ser
ENST00000412252.6:c.894C>A	ENSP00000414876.2:n.894C>A
ENST00000601538.6:c.5116C>A MANE Select	ENSP00000469689.2:p.Arg1706Ser
ENST00000654939.1:c.2625C>A
ENST00000656230.1:c.3979C>A	ENSP00000499561.1:p.Arg1327Ser
ENST00000659264.1:c.3406C>A	ENSP00000499270.1:p.Arg1136Ser
ENST00000338508.8:c.3352C>A	ENSP00000345193.6:p.Arg1118Ser
ENST00000357171.7:c.*120C>A	ENSP00000349694.4:n.*120C>A
ENST00000409161.5:c.3328C>A	ENSP00000386491.1:p.Arg1110Ser
ENST00000412252.5:c.892C>A
ENST00000423696.6:c.3979C>A	ENSP00000394536.2:p.Arg1327Ser
ENST00000424924.5:c.2953C>A	ENSP00000402944.1:p.Arg985Ser
ENST00000449833.6:c.3352C>A	ENSP00000399423.3:p.Arg1118Ser
ENST00000601538.5:c.5116C>A	ENSP00000469689.2:p.Arg1706Ser
ENST00000606715.3:n.1868C>A
NM_012309.4:c.5116C>A	NP_036441.2:p.Arg1706Ser
NM_133266.4:c.3352C>A	NP_573573.2:p.Arg1118Ser
NR_110766.1:n.970C>A
XM_005277930.2:c.5116C>A	XP_005277987.1:p.Arg1706Ser
XM_005277932.2:c.3979C>A	XP_005277989.1:p.Arg1327Ser
XM_006718478.2:c.5086C>A	XP_006718541.1:p.Arg1696Ser
XM_011544854.1:c.5128C>A	XP_011543156.1:p.Arg1710Ser
XM_011544855.1:c.5107C>A	XP_011543157.1:p.Arg1703Ser
XM_011544856.1:c.5101C>A	XP_011543158.1:p.Arg1701Ser
XM_011544857.1:c.5080C>A	XP_011543159.1:p.Arg1694Ser
XM_011544859.1:c.3991C>A	XP_011543161.1:p.Arg1331Ser
XM_005277932.3:c.3979C>A	XP_005277989.1:p.Arg1327Ser
XM_017017387.1:c.5116C>A	XP_016872876.1:p.Arg1706Ser
XM_017017388.1:c.5116C>A	XP_016872877.1:p.Arg1706Ser
XM_017017389.1:c.5089C>A	XP_016872878.1:p.Arg1697Ser
XM_017017390.1:c.3406C>A	XP_016872879.1:p.Arg1136Ser
NM_133266.5:c.3352C>A	NP_573573.2:p.Arg1118Ser
NR_110766.2:n.971C>A
NM_001379226.1:c.3979C>A	NP_001366155.1:p.Arg1327Ser
NM_012309.5:c.5116C>A MANE Select	NP_036441.2:p.Arg1706Ser