Canonical Allele Identifier: CA1981068051

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473425A= , CM000673.2:g.70473425A=	GRCh38
NC_000011.9:g.70319530A= , CM000673.1:g.70319530A=	GRCh37
NC_000011.8:g.69997178A=	NCBI36
NG_042866.1:g.656372T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3227T=	ENSP00000345193.7:p.Met1076=
ENST00000412252.6:c.772T=	ENSP00000414876.2:p.Ter258=
ENST00000601538.6:c.4994T= MANE Select	ENSP00000469689.2:p.Met1665=
ENST00000654939.1:c.2503T=
ENST00000656230.1:c.3857T=	ENSP00000499561.1:p.Met1286=
ENST00000659264.1:c.3284T=	ENSP00000499270.1:p.Met1095=
ENST00000338508.8:c.3230T=	ENSP00000345193.6:p.Met1077=
ENST00000357171.7:c.733T=	ENSP00000349694.4:p.Ter245=
ENST00000409161.5:c.3206T=	ENSP00000386491.1:p.Met1069=
ENST00000412252.5:c.770T=
ENST00000423696.6:c.3857T=	ENSP00000394536.2:p.Met1286=
ENST00000424924.5:c.2831T=	ENSP00000402944.1:p.Met944=
ENST00000449833.6:c.3230T=	ENSP00000399423.3:p.Met1077=
ENST00000601538.5:c.4994T=	ENSP00000469689.2:p.Met1665=
ENST00000606715.3:n.1746T=
NM_012309.4:c.4994T=	NP_036441.2:p.Met1665=
NM_133266.4:c.3230T=	NP_573573.2:p.Met1077=
NR_110766.1:n.848T=
XM_005277930.2:c.4994T=	XP_005277987.1:p.Met1665=
XM_005277932.2:c.3857T=	XP_005277989.1:p.Met1286=
XM_006718478.2:c.4964T=	XP_006718541.1:p.Met1655=
XM_011544854.1:c.5006T=	XP_011543156.1:p.Met1669=
XM_011544855.1:c.4985T=	XP_011543157.1:p.Met1662=
XM_011544856.1:c.4979T=	XP_011543158.1:p.Met1660=
XM_011544857.1:c.4958T=	XP_011543159.1:p.Met1653=
XM_011544859.1:c.3869T=	XP_011543161.1:p.Met1290=
XM_005277932.3:c.3857T=	XP_005277989.1:p.Met1286=
XM_017017387.1:c.4994T=	XP_016872876.1:p.Met1665=
XM_017017388.1:c.4994T=	XP_016872877.1:p.Met1665=
XM_017017389.1:c.4967T=	XP_016872878.1:p.Met1656=
XM_017017390.1:c.3284T=	XP_016872879.1:p.Met1095=
NM_133266.5:c.3230T=	NP_573573.2:p.Met1077=
NR_110766.2:n.849T=
NM_001379226.1:c.3857T=	NP_001366155.1:p.Met1286=
NM_012309.5:c.4994T= MANE Select	NP_036441.2:p.Met1665=