Canonical Allele Identifier: CA381689491

Gene: SHANK2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70487700G>A , CM000673.2:g.70487700G>A	GRCh38
NC_000011.9:g.70333805G>A , CM000673.1:g.70333805G>A	GRCh37
NC_000011.8:g.70011453G>A	NCBI36
NG_042866.1:g.642097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.826C>T	ENSP00000345193.7:p.Gln276Ter
ENST00000412252.6:c.757+2603C>T	ENSP00000414876.2:n.757+2603C>T
ENST00000601538.6:c.2593C>T MANE Select	ENSP00000469689.2:p.Gln865Ter
ENST00000654939.1:c.21C>T
ENST00000656230.1:c.1456C>T	ENSP00000499561.1:p.Gln486Ter
ENST00000659264.1:c.883C>T	ENSP00000499270.1:p.Gln295Ter
ENST00000338508.8:c.829C>T	ENSP00000345193.6:p.Gln277Ter
ENST00000357171.7:c.718+2603C>T	ENSP00000349694.4:n.718+2603C>T
ENST00000409161.5:c.805C>T	ENSP00000386491.1:p.Gln269Ter
ENST00000412252.5:c.755+2603C>T
ENST00000423696.6:c.1456C>T	ENSP00000394536.2:p.Gln486Ter
ENST00000424924.5:c.430C>T	ENSP00000402944.1:p.Gln144Ter
ENST00000449833.6:c.829C>T	ENSP00000399423.3:p.Gln277Ter
ENST00000601538.5:c.2593C>T	ENSP00000469689.2:p.Gln865Ter
NM_012309.4:c.2593C>T	NP_036441.2:p.Gln865Ter
NM_133266.4:c.829C>T	NP_573573.2:p.Gln277Ter
NR_110766.1:n.833+2603C>T
XM_005277930.2:c.2593C>T	XP_005277987.1:p.Gln865Ter
XM_005277932.2:c.1456C>T	XP_005277989.1:p.Gln486Ter
XM_006718478.2:c.2563C>T	XP_006718541.1:p.Gln855Ter
XM_011544854.1:c.2605C>T	XP_011543156.1:p.Gln869Ter
XM_011544855.1:c.2584C>T	XP_011543157.1:p.Gln862Ter
XM_011544856.1:c.2578C>T	XP_011543158.1:p.Gln860Ter
XM_011544857.1:c.2557C>T	XP_011543159.1:p.Gln853Ter
XM_011544858.1:c.2605C>T	XP_011543160.1:p.Gln869Ter
XM_011544859.1:c.1468C>T	XP_011543161.1:p.Gln490Ter
XM_005277932.3:c.1456C>T	XP_005277989.1:p.Gln486Ter
XM_017017387.1:c.2593C>T	XP_016872876.1:p.Gln865Ter
XM_017017388.1:c.2593C>T	XP_016872877.1:p.Gln865Ter
XM_017017389.1:c.2566C>T	XP_016872878.1:p.Gln856Ter
XM_017017390.1:c.883C>T	XP_016872879.1:p.Gln295Ter
NM_133266.5:c.829C>T	NP_573573.2:p.Gln277Ter
NR_110766.2:n.834+2603C>T
NM_001379226.1:c.1456C>T	NP_001366155.1:p.Gln486Ter
NM_012309.5:c.2593C>T MANE Select	NP_036441.2:p.Gln865Ter