Canonical Allele Identifier: CA1981068057

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473436G= , CM000673.2:g.70473436G=	GRCh38
NC_000011.9:g.70319541G= , CM000673.1:g.70319541G=	GRCh37
NC_000011.8:g.69997189G=	NCBI36
NG_042866.1:g.656361C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3216C=	ENSP00000345193.7:p.Ser1072=
ENST00000412252.6:c.761C=	ENSP00000414876.2:p.Ala254=
ENST00000601538.6:c.4983C= MANE Select	ENSP00000469689.2:p.Ser1661=
ENST00000654939.1:c.2492C=
ENST00000656230.1:c.3846C=	ENSP00000499561.1:p.Ser1282=
ENST00000659264.1:c.3273C=	ENSP00000499270.1:p.Ser1091=
ENST00000338508.8:c.3219C=	ENSP00000345193.6:p.Ser1073=
ENST00000357171.7:c.722C=	ENSP00000349694.4:p.Ala241=
ENST00000409161.5:c.3195C=	ENSP00000386491.1:p.Ser1065=
ENST00000412252.5:c.759C=
ENST00000423696.6:c.3846C=	ENSP00000394536.2:p.Ser1282=
ENST00000424924.5:c.2820C=	ENSP00000402944.1:p.Ser940=
ENST00000449833.6:c.3219C=	ENSP00000399423.3:p.Ser1073=
ENST00000601538.5:c.4983C=	ENSP00000469689.2:p.Ser1661=
ENST00000606715.3:n.1735C=
NM_012309.4:c.4983C=	NP_036441.2:p.Ser1661=
NM_133266.4:c.3219C=	NP_573573.2:p.Ser1073=
NR_110766.1:n.837C=
XM_005277930.2:c.4983C=	XP_005277987.1:p.Ser1661=
XM_005277932.2:c.3846C=	XP_005277989.1:p.Ser1282=
XM_006718478.2:c.4953C=	XP_006718541.1:p.Ser1651=
XM_011544854.1:c.4995C=	XP_011543156.1:p.Ser1665=
XM_011544855.1:c.4974C=	XP_011543157.1:p.Ser1658=
XM_011544856.1:c.4968C=	XP_011543158.1:p.Ser1656=
XM_011544857.1:c.4947C=	XP_011543159.1:p.Ser1649=
XM_011544859.1:c.3858C=	XP_011543161.1:p.Ser1286=
XM_005277932.3:c.3846C=	XP_005277989.1:p.Ser1282=
XM_017017387.1:c.4983C=	XP_016872876.1:p.Ser1661=
XM_017017388.1:c.4983C=	XP_016872877.1:p.Ser1661=
XM_017017389.1:c.4956C=	XP_016872878.1:p.Ser1652=
XM_017017390.1:c.3273C=	XP_016872879.1:p.Ser1091=
NM_133266.5:c.3219C=	NP_573573.2:p.Ser1073=
NR_110766.2:n.838C=
NM_001379226.1:c.3846C=	NP_001366155.1:p.Ser1282=
NM_012309.5:c.4983C= MANE Select	NP_036441.2:p.Ser1661=