Canonical Allele Identifier: CA381961172

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70858207T>G (hg19) ; chr11:g.71147161T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71147161T>G , CM000673.2:g.71147161T>G	GRCh38
NC_000011.9:g.70858207T>G , CM000673.1:g.70858207T>G	GRCh37
NC_000011.8:g.70535855T>G	NCBI36
NG_042866.1:g.82636A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601538.6:c.166A>C MANE Select	ENSP00000469689.2:p.Thr56Pro
ENST00000601538.5:c.166A>C	ENSP00000469689.2:p.Thr56Pro
ENST00000608988.5:c.166A>C	ENSP00000476264.2:p.Thr56Pro
NM_012309.4:c.166A>C	NP_036441.2:p.Thr56Pro
XM_005277930.2:c.166A>C	XP_005277987.1:p.Thr56Pro
XM_006718478.2:c.166A>C	XP_006718541.1:p.Thr56Pro
XM_011544854.1:c.166A>C	XP_011543156.1:p.Thr56Pro
XM_011544855.1:c.166A>C	XP_011543157.1:p.Thr56Pro
XM_011544856.1:c.166A>C	XP_011543158.1:p.Thr56Pro
XM_011544857.1:c.166A>C	XP_011543159.1:p.Thr56Pro
XM_011544858.1:c.166A>C	XP_011543160.1:p.Thr56Pro
XM_017017387.1:c.166A>C	XP_016872876.1:p.Thr56Pro
XM_017017388.1:c.166A>C	XP_016872877.1:p.Thr56Pro
XM_017017389.1:c.166A>C	XP_016872878.1:p.Thr56Pro
NM_012309.5:c.166A>C MANE Select	NP_036441.2:p.Thr56Pro