Canonical Allele Identifier: CA381676808

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319522T>A (hg19) ; chr11:g.70473417T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473417T>A , CM000673.2:g.70473417T>A	GRCh38
NC_000011.9:g.70319522T>A , CM000673.1:g.70319522T>A	GRCh37
NC_000011.8:g.69997170T>A	NCBI36
NG_042866.1:g.656380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3235A>T	ENSP00000345193.7:p.Ile1079Phe
ENST00000412252.6:c.780A>T	ENSP00000414876.2:n.780A>T
ENST00000601538.6:c.5002A>T MANE Select	ENSP00000469689.2:p.Ile1668Phe
ENST00000654939.1:c.2511A>T
ENST00000656230.1:c.3865A>T	ENSP00000499561.1:p.Ile1289Phe
ENST00000659264.1:c.3292A>T	ENSP00000499270.1:p.Ile1098Phe
ENST00000338508.8:c.3238A>T	ENSP00000345193.6:p.Ile1080Phe
ENST00000357171.7:c.*6A>T	ENSP00000349694.4:n.*6A>T
ENST00000409161.5:c.3214A>T	ENSP00000386491.1:p.Ile1072Phe
ENST00000412252.5:c.778A>T
ENST00000423696.6:c.3865A>T	ENSP00000394536.2:p.Ile1289Phe
ENST00000424924.5:c.2839A>T	ENSP00000402944.1:p.Ile947Phe
ENST00000449833.6:c.3238A>T	ENSP00000399423.3:p.Ile1080Phe
ENST00000601538.5:c.5002A>T	ENSP00000469689.2:p.Ile1668Phe
ENST00000606715.3:n.1754A>T
NM_012309.4:c.5002A>T	NP_036441.2:p.Ile1668Phe
NM_133266.4:c.3238A>T	NP_573573.2:p.Ile1080Phe
NR_110766.1:n.856A>T
XM_005277930.2:c.5002A>T	XP_005277987.1:p.Ile1668Phe
XM_005277932.2:c.3865A>T	XP_005277989.1:p.Ile1289Phe
XM_006718478.2:c.4972A>T	XP_006718541.1:p.Ile1658Phe
XM_011544854.1:c.5014A>T	XP_011543156.1:p.Ile1672Phe
XM_011544855.1:c.4993A>T	XP_011543157.1:p.Ile1665Phe
XM_011544856.1:c.4987A>T	XP_011543158.1:p.Ile1663Phe
XM_011544857.1:c.4966A>T	XP_011543159.1:p.Ile1656Phe
XM_011544859.1:c.3877A>T	XP_011543161.1:p.Ile1293Phe
XM_005277932.3:c.3865A>T	XP_005277989.1:p.Ile1289Phe
XM_017017387.1:c.5002A>T	XP_016872876.1:p.Ile1668Phe
XM_017017388.1:c.5002A>T	XP_016872877.1:p.Ile1668Phe
XM_017017389.1:c.4975A>T	XP_016872878.1:p.Ile1659Phe
XM_017017390.1:c.3292A>T	XP_016872879.1:p.Ile1098Phe
NM_133266.5:c.3238A>T	NP_573573.2:p.Ile1080Phe
NR_110766.2:n.857A>T
NM_001379226.1:c.3865A>T	NP_001366155.1:p.Ile1289Phe
NM_012309.5:c.5002A>T MANE Select	NP_036441.2:p.Ile1668Phe