Canonical Allele Identifier: CA6161150

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70487027C>T , CM000673.2:g.70487027C>T	GRCh38
NC_000011.9:g.70333132C>T , CM000673.1:g.70333132C>T	GRCh37
NC_000011.8:g.70010780C>T	NCBI36
NG_042866.1:g.642770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.1499G>A	ENSP00000345193.7:p.Arg500His
ENST00000412252.6:c.757+3276G>A	ENSP00000414876.2:n.757+3276G>A
ENST00000601538.6:c.3266G>A MANE Select	ENSP00000469689.2:p.Arg1089His
ENST00000654939.1:c.694G>A
ENST00000656230.1:c.2129G>A	ENSP00000499561.1:p.Arg710His
ENST00000659264.1:c.1556G>A	ENSP00000499270.1:p.Arg519His
ENST00000338508.8:c.1502G>A	ENSP00000345193.6:p.Arg501His
ENST00000357171.7:c.718+3276G>A	ENSP00000349694.4:n.718+3276G>A
ENST00000409161.5:c.1478G>A	ENSP00000386491.1:p.Arg493His
ENST00000412252.5:c.755+3276G>A
ENST00000423696.6:c.2129G>A	ENSP00000394536.2:p.Arg710His
ENST00000424924.5:c.1103G>A	ENSP00000402944.1:p.Arg368His
ENST00000449833.6:c.1502G>A	ENSP00000399423.3:p.Arg501His
ENST00000601538.5:c.3266G>A	ENSP00000469689.2:p.Arg1089His
NM_012309.4:c.3266G>A	NP_036441.2:p.Arg1089His
NM_133266.4:c.1502G>A	NP_573573.2:p.Arg501His
NR_110766.1:n.833+3276G>A
XM_005277930.2:c.3266G>A	XP_005277987.1:p.Arg1089His
XM_005277932.2:c.2129G>A	XP_005277989.1:p.Arg710His
XM_006718478.2:c.3236G>A	XP_006718541.1:p.Arg1079His
XM_011544854.1:c.3278G>A	XP_011543156.1:p.Arg1093His
XM_011544855.1:c.3257G>A	XP_011543157.1:p.Arg1086His
XM_011544856.1:c.3251G>A	XP_011543158.1:p.Arg1084His
XM_011544857.1:c.3230G>A	XP_011543159.1:p.Arg1077His
XM_011544858.1:c.3278G>A	XP_011543160.1:p.Arg1093His
XM_011544859.1:c.2141G>A	XP_011543161.1:p.Arg714His
XM_005277932.3:c.2129G>A	XP_005277989.1:p.Arg710His
XM_017017387.1:c.3266G>A	XP_016872876.1:p.Arg1089His
XM_017017388.1:c.3266G>A	XP_016872877.1:p.Arg1089His
XM_017017389.1:c.3239G>A	XP_016872878.1:p.Arg1080His
XM_017017390.1:c.1556G>A	XP_016872879.1:p.Arg519His
NM_133266.5:c.1502G>A	NP_573573.2:p.Arg501His
NR_110766.2:n.834+3276G>A
NM_001379226.1:c.2129G>A	NP_001366155.1:p.Arg710His
NM_012309.5:c.3266G>A MANE Select	NP_036441.2:p.Arg1089His