Canonical Allele Identifier: CA1981068038

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473388G= , CM000673.2:g.70473388G=	GRCh38
NC_000011.9:g.70319493G= , CM000673.1:g.70319493G=	GRCh37
NC_000011.8:g.69997141G=	NCBI36
NG_042866.1:g.656409C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3264C=	ENSP00000345193.7:p.Thr1088=
ENST00000412252.6:c.809C=	ENSP00000414876.2:n.809C=
ENST00000601538.6:c.5031C= MANE Select	ENSP00000469689.2:p.Thr1677=
ENST00000654939.1:c.2540C=
ENST00000656230.1:c.3894C=	ENSP00000499561.1:p.Thr1298=
ENST00000659264.1:c.3321C=	ENSP00000499270.1:p.Thr1107=
ENST00000338508.8:c.3267C=	ENSP00000345193.6:p.Thr1089=
ENST00000357171.7:c.*35C=	ENSP00000349694.4:n.*35C=
ENST00000409161.5:c.3243C=	ENSP00000386491.1:p.Thr1081=
ENST00000412252.5:c.807C=
ENST00000423696.6:c.3894C=	ENSP00000394536.2:p.Thr1298=
ENST00000424924.5:c.2868C=	ENSP00000402944.1:p.Thr956=
ENST00000449833.6:c.3267C=	ENSP00000399423.3:p.Thr1089=
ENST00000601538.5:c.5031C=	ENSP00000469689.2:p.Thr1677=
ENST00000606715.3:n.1783C=
NM_012309.4:c.5031C=	NP_036441.2:p.Thr1677=
NM_133266.4:c.3267C=	NP_573573.2:p.Thr1089=
NR_110766.1:n.885C=
XM_005277930.2:c.5031C=	XP_005277987.1:p.Thr1677=
XM_005277932.2:c.3894C=	XP_005277989.1:p.Thr1298=
XM_006718478.2:c.5001C=	XP_006718541.1:p.Thr1667=
XM_011544854.1:c.5043C=	XP_011543156.1:p.Thr1681=
XM_011544855.1:c.5022C=	XP_011543157.1:p.Thr1674=
XM_011544856.1:c.5016C=	XP_011543158.1:p.Thr1672=
XM_011544857.1:c.4995C=	XP_011543159.1:p.Thr1665=
XM_011544859.1:c.3906C=	XP_011543161.1:p.Thr1302=
XM_005277932.3:c.3894C=	XP_005277989.1:p.Thr1298=
XM_017017387.1:c.5031C=	XP_016872876.1:p.Thr1677=
XM_017017388.1:c.5031C=	XP_016872877.1:p.Thr1677=
XM_017017389.1:c.5004C=	XP_016872878.1:p.Thr1668=
XM_017017390.1:c.3321C=	XP_016872879.1:p.Thr1107=
NM_133266.5:c.3267C=	NP_573573.2:p.Thr1089=
NR_110766.2:n.886C=
NM_001379226.1:c.3894C=	NP_001366155.1:p.Thr1298=
NM_012309.5:c.5031C= MANE Select	NP_036441.2:p.Thr1677=