Canonical Allele Identifier: CA6160729

Gene: SHANK2

Linked Data

• dbSNP Id: rs781822283
• ExAC: 11:70319245 C / T
• gnomAD v2: 11-70319245-C-T
• gnomAD v3: 11-70473140-C-T
• gnomAD v4: 11-70473140-C-T
• MyVariant Identifiers: chr11:g.70319245C>T (hg19) ; chr11:g.70473140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473140C>T , CM000673.2:g.70473140C>T	GRCh38
NC_000011.9:g.70319245C>T , CM000673.1:g.70319245C>T	GRCh37
NC_000011.8:g.69996893C>T	NCBI36
NG_042866.1:g.656657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3512G>A	ENSP00000345193.7:p.Arg1171His
ENST00000412252.6:c.1057G>A	ENSP00000414876.2:n.1057G>A
ENST00000601538.6:c.5279G>A MANE Select	ENSP00000469689.2:p.Arg1760His
ENST00000654939.1:c.2788G>A
ENST00000656230.1:c.4142G>A	ENSP00000499561.1:p.Arg1381His
ENST00000659264.1:c.3569G>A	ENSP00000499270.1:p.Arg1190His
ENST00000338508.8:c.3515G>A	ENSP00000345193.6:p.Arg1172His
ENST00000357171.7:c.*283G>A	ENSP00000349694.4:n.*283G>A
ENST00000409161.5:c.3491G>A	ENSP00000386491.1:p.Arg1164His
ENST00000412252.5:c.1055G>A
ENST00000423696.6:c.4142G>A	ENSP00000394536.2:p.Arg1381His
ENST00000424924.5:c.3116G>A	ENSP00000402944.1:p.Arg1039His
ENST00000449833.6:c.3515G>A	ENSP00000399423.3:p.Arg1172His
ENST00000601538.5:c.5279G>A	ENSP00000469689.2:p.Arg1760His
ENST00000606715.3:n.2031G>A
NM_012309.4:c.5279G>A	NP_036441.2:p.Arg1760His
NM_133266.4:c.3515G>A	NP_573573.2:p.Arg1172His
NR_110766.1:n.1133G>A
XM_005277930.2:c.5279G>A	XP_005277987.1:p.Arg1760His
XM_005277932.2:c.4142G>A	XP_005277989.1:p.Arg1381His
XM_006718478.2:c.5249G>A	XP_006718541.1:p.Arg1750His
XM_011544854.1:c.5291G>A	XP_011543156.1:p.Arg1764His
XM_011544855.1:c.5270G>A	XP_011543157.1:p.Arg1757His
XM_011544856.1:c.5264G>A	XP_011543158.1:p.Arg1755His
XM_011544857.1:c.5243G>A	XP_011543159.1:p.Arg1748His
XM_011544859.1:c.4154G>A	XP_011543161.1:p.Arg1385His
XM_005277932.3:c.4142G>A	XP_005277989.1:p.Arg1381His
XM_017017387.1:c.5279G>A	XP_016872876.1:p.Arg1760His
XM_017017388.1:c.5279G>A	XP_016872877.1:p.Arg1760His
XM_017017389.1:c.5252G>A	XP_016872878.1:p.Arg1751His
XM_017017390.1:c.3569G>A	XP_016872879.1:p.Arg1190His
NM_133266.5:c.3515G>A	NP_573573.2:p.Arg1172His
NR_110766.2:n.1134G>A
NM_001379226.1:c.4142G>A	NP_001366155.1:p.Arg1381His
NM_012309.5:c.5279G>A MANE Select	NP_036441.2:p.Arg1760His