Canonical Allele Identifier: CA223591893

Gene: SHANK2

Linked Data

• dbSNP Id: rs142444295
• gnomAD v2: 11-70319510-G-A
• gnomAD v4: 11-70473405-G-A
• MyVariant Identifiers: chr11:g.70319510G>A (hg19) ; chr11:g.70473405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473405G>A , CM000673.2:g.70473405G>A	GRCh38
NC_000011.9:g.70319510G>A , CM000673.1:g.70319510G>A	GRCh37
NC_000011.8:g.69997158G>A	NCBI36
NG_042866.1:g.656392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3247C>T	ENSP00000345193.7:p.Arg1083Trp
ENST00000412252.6:c.792C>T	ENSP00000414876.2:n.792C>T
ENST00000601538.6:c.5014C>T MANE Select	ENSP00000469689.2:p.Arg1672Trp
ENST00000654939.1:c.2523C>T
ENST00000656230.1:c.3877C>T	ENSP00000499561.1:p.Arg1293Trp
ENST00000659264.1:c.3304C>T	ENSP00000499270.1:p.Arg1102Trp
ENST00000338508.8:c.3250C>T	ENSP00000345193.6:p.Arg1084Trp
ENST00000357171.7:c.*18C>T	ENSP00000349694.4:n.*18C>T
ENST00000409161.5:c.3226C>T	ENSP00000386491.1:p.Arg1076Trp
ENST00000412252.5:c.790C>T
ENST00000423696.6:c.3877C>T	ENSP00000394536.2:p.Arg1293Trp
ENST00000424924.5:c.2851C>T	ENSP00000402944.1:p.Arg951Trp
ENST00000449833.6:c.3250C>T	ENSP00000399423.3:p.Arg1084Trp
ENST00000601538.5:c.5014C>T	ENSP00000469689.2:p.Arg1672Trp
ENST00000606715.3:n.1766C>T
NM_012309.4:c.5014C>T	NP_036441.2:p.Arg1672Trp
NM_133266.4:c.3250C>T	NP_573573.2:p.Arg1084Trp
NR_110766.1:n.868C>T
XM_005277930.2:c.5014C>T	XP_005277987.1:p.Arg1672Trp
XM_005277932.2:c.3877C>T	XP_005277989.1:p.Arg1293Trp
XM_006718478.2:c.4984C>T	XP_006718541.1:p.Arg1662Trp
XM_011544854.1:c.5026C>T	XP_011543156.1:p.Arg1676Trp
XM_011544855.1:c.5005C>T	XP_011543157.1:p.Arg1669Trp
XM_011544856.1:c.4999C>T	XP_011543158.1:p.Arg1667Trp
XM_011544857.1:c.4978C>T	XP_011543159.1:p.Arg1660Trp
XM_011544859.1:c.3889C>T	XP_011543161.1:p.Arg1297Trp
XM_005277932.3:c.3877C>T	XP_005277989.1:p.Arg1293Trp
XM_017017387.1:c.5014C>T	XP_016872876.1:p.Arg1672Trp
XM_017017388.1:c.5014C>T	XP_016872877.1:p.Arg1672Trp
XM_017017389.1:c.4987C>T	XP_016872878.1:p.Arg1663Trp
XM_017017390.1:c.3304C>T	XP_016872879.1:p.Arg1102Trp
NM_133266.5:c.3250C>T	NP_573573.2:p.Arg1084Trp
NR_110766.2:n.869C>T
NM_001379226.1:c.3877C>T	NP_001366155.1:p.Arg1293Trp
NM_012309.5:c.5014C>T MANE Select	NP_036441.2:p.Arg1672Trp