Canonical Allele Identifier: CA224396301

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71216711G>A , CM000673.2:g.71216711G>A	GRCh38
NC_000011.9:g.70927757G>A , CM000673.1:g.70927757G>A	GRCh37
NC_000011.8:g.70605405G>A	NCBI36
NG_042866.1:g.13086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601538.6:c.-13+7986C>T MANE Select	ENSP00000469689.2:n.-13+7986C>T
ENST00000482659.2:n.229+7986C>T
ENST00000601538.5:c.-13+7986C>T	ENSP00000469689.2:n.-13+7986C>T
ENST00000608988.5:c.-13+7986C>T	ENSP00000476264.2:n.-13+7986C>T
NM_012309.4:c.-13+7986C>T	NP_036441.2:n.-13+7986C>T
XM_005277930.2:c.-13+7986C>T	XP_005277987.1:n.-13+7986C>T
XM_006718478.2:c.-13+7986C>T	XP_006718541.1:n.-13+7986C>T
XM_011544854.1:c.-13+7986C>T	XP_011543156.1:n.-13+7986C>T
XM_011544855.1:c.-13+7986C>T	XP_011543157.1:n.-13+7986C>T
XM_011544856.1:c.-13+7986C>T	XP_011543158.1:n.-13+7986C>T
XM_011544857.1:c.-13+7986C>T	XP_011543159.1:n.-13+7986C>T
XM_011544858.1:c.-13+7986C>T	XP_011543160.1:n.-13+7986C>T
XM_017017387.1:c.-13+7986C>T	XP_016872876.1:n.-13+7986C>T
XM_017017388.1:c.-13+7986C>T	XP_016872877.1:n.-13+7986C>T
XM_017017389.1:c.-13+7986C>T	XP_016872878.1:n.-13+7986C>T
NM_012309.5:c.-13+7986C>T MANE Select	NP_036441.2:n.-13+7986C>T