Canonical Allele Identifier: CA1981067975

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473268C= , CM000673.2:g.70473268C=	GRCh38
NC_000011.9:g.70319373C= , CM000673.1:g.70319373C=	GRCh37
NC_000011.8:g.69997021C=	NCBI36
NG_042866.1:g.656529G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3384G=	ENSP00000345193.7:p.Met1128=
ENST00000412252.6:c.929G=	ENSP00000414876.2:n.929G=
ENST00000601538.6:c.5151G= MANE Select	ENSP00000469689.2:p.Met1717=
ENST00000654939.1:c.2660G=
ENST00000656230.1:c.4014G=	ENSP00000499561.1:p.Met1338=
ENST00000659264.1:c.3441G=	ENSP00000499270.1:p.Met1147=
ENST00000338508.8:c.3387G=	ENSP00000345193.6:p.Met1129=
ENST00000357171.7:c.*155G=	ENSP00000349694.4:n.*155G=
ENST00000409161.5:c.3363G=	ENSP00000386491.1:p.Met1121=
ENST00000412252.5:c.927G=
ENST00000423696.6:c.4014G=	ENSP00000394536.2:p.Met1338=
ENST00000424924.5:c.2988G=	ENSP00000402944.1:p.Met996=
ENST00000449833.6:c.3387G=	ENSP00000399423.3:p.Met1129=
ENST00000601538.5:c.5151G=	ENSP00000469689.2:p.Met1717=
ENST00000606715.3:n.1903G=
NM_012309.4:c.5151G=	NP_036441.2:p.Met1717=
NM_133266.4:c.3387G=	NP_573573.2:p.Met1129=
NR_110766.1:n.1005G=
XM_005277930.2:c.5151G=	XP_005277987.1:p.Met1717=
XM_005277932.2:c.4014G=	XP_005277989.1:p.Met1338=
XM_006718478.2:c.5121G=	XP_006718541.1:p.Met1707=
XM_011544854.1:c.5163G=	XP_011543156.1:p.Met1721=
XM_011544855.1:c.5142G=	XP_011543157.1:p.Met1714=
XM_011544856.1:c.5136G=	XP_011543158.1:p.Met1712=
XM_011544857.1:c.5115G=	XP_011543159.1:p.Met1705=
XM_011544859.1:c.4026G=	XP_011543161.1:p.Met1342=
XM_005277932.3:c.4014G=	XP_005277989.1:p.Met1338=
XM_017017387.1:c.5151G=	XP_016872876.1:p.Met1717=
XM_017017388.1:c.5151G=	XP_016872877.1:p.Met1717=
XM_017017389.1:c.5124G=	XP_016872878.1:p.Met1708=
XM_017017390.1:c.3441G=	XP_016872879.1:p.Met1147=
NM_133266.5:c.3387G=	NP_573573.2:p.Met1129=
NR_110766.2:n.1006G=
NM_001379226.1:c.4014G=	NP_001366155.1:p.Met1338=
NM_012309.5:c.5151G= MANE Select	NP_036441.2:p.Met1717=