Canonical Allele Identifier: CA1981314877

Gene: SHANK2

Linked Data

• dbSNP Id: rs1951346979

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71084248_71084251dup , CM000673.2:g.71084248_71084251dup	GRCh38
NG_042866.1:g.145548_145551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601538.6:c.912+8173_912+8176dup MANE Select	ENSP00000469689.2:n.912+8173_912+8176dup
ENST00000458632.2:c.320+8173_320+8176dup
ENST00000601538.5:c.912+8173_912+8176dup	ENSP00000469689.2:n.912+8173_912+8176dup
ENST00000608988.5:c.*475+8173_*475+8176dup	ENSP00000476264.2:n.*475+8173_*475+8176dup
ENST00000618363.4:c.56+8173_56+8176dup
NM_012309.4:c.912+8173_912+8176dup	NP_036441.2:n.912+8173_912+8176dup
XM_005277930.2:c.912+8173_912+8176dup	XP_005277987.1:n.912+8173_912+8176dup
XM_006718478.2:c.912+8173_912+8176dup	XP_006718541.1:n.912+8173_912+8176dup
XM_011544854.1:c.912+8173_912+8176dup	XP_011543156.1:n.912+8173_912+8176dup
XM_011544855.1:c.912+8173_912+8176dup	XP_011543157.1:n.912+8173_912+8176dup
XM_011544856.1:c.912+8173_912+8176dup	XP_011543158.1:n.912+8173_912+8176dup
XM_011544857.1:c.912+8173_912+8176dup	XP_011543159.1:n.912+8173_912+8176dup
XM_011544858.1:c.912+8173_912+8176dup	XP_011543160.1:n.912+8173_912+8176dup
XM_017017387.1:c.912+8173_912+8176dup	XP_016872876.1:n.912+8173_912+8176dup
XM_017017388.1:c.912+8173_912+8176dup	XP_016872877.1:n.912+8173_912+8176dup
XM_017017389.1:c.912+8173_912+8176dup	XP_016872878.1:n.912+8173_912+8176dup
NM_012309.5:c.912+8173_912+8176dup MANE Select	NP_036441.2:n.912+8173_912+8176dup