Canonical Allele Identifier: CA475471174

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319271A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473166A>G , CM000673.2:g.70473166A>G	GRCh38
NC_000011.9:g.70319271A>G , CM000673.1:g.70319271A>G	GRCh37
NC_000011.8:g.69996919A>G	NCBI36
NG_042866.1:g.656631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3486T>C	ENSP00000345193.7:p.Asp1162=
ENST00000412252.6:c.1031T>C	ENSP00000414876.2:n.1031T>C
ENST00000601538.6:c.5253T>C MANE Select	ENSP00000469689.2:p.Asp1751=
ENST00000654939.1:c.2762T>C
ENST00000656230.1:c.4116T>C	ENSP00000499561.1:p.Asp1372=
ENST00000659264.1:c.3543T>C	ENSP00000499270.1:p.Asp1181=
ENST00000338508.8:c.3489T>C	ENSP00000345193.6:p.Asp1163=
ENST00000357171.7:c.*257T>C	ENSP00000349694.4:n.*257T>C
ENST00000409161.5:c.3465T>C	ENSP00000386491.1:p.Asp1155=
ENST00000412252.5:c.1029T>C
ENST00000423696.6:c.4116T>C	ENSP00000394536.2:p.Asp1372=
ENST00000424924.5:c.3090T>C	ENSP00000402944.1:p.Asp1030=
ENST00000449833.6:c.3489T>C	ENSP00000399423.3:p.Asp1163=
ENST00000601538.5:c.5253T>C	ENSP00000469689.2:p.Asp1751=
ENST00000606715.3:n.2005T>C
NM_012309.4:c.5253T>C	NP_036441.2:p.Asp1751=
NM_133266.4:c.3489T>C	NP_573573.2:p.Asp1163=
NR_110766.1:n.1107T>C
XM_005277930.2:c.5253T>C	XP_005277987.1:p.Asp1751=
XM_005277932.2:c.4116T>C	XP_005277989.1:p.Asp1372=
XM_006718478.2:c.5223T>C	XP_006718541.1:p.Asp1741=
XM_011544854.1:c.5265T>C	XP_011543156.1:p.Asp1755=
XM_011544855.1:c.5244T>C	XP_011543157.1:p.Asp1748=
XM_011544856.1:c.5238T>C	XP_011543158.1:p.Asp1746=
XM_011544857.1:c.5217T>C	XP_011543159.1:p.Asp1739=
XM_011544859.1:c.4128T>C	XP_011543161.1:p.Asp1376=
XM_005277932.3:c.4116T>C	XP_005277989.1:p.Asp1372=
XM_017017387.1:c.5253T>C	XP_016872876.1:p.Asp1751=
XM_017017388.1:c.5253T>C	XP_016872877.1:p.Asp1751=
XM_017017389.1:c.5226T>C	XP_016872878.1:p.Asp1742=
XM_017017390.1:c.3543T>C	XP_016872879.1:p.Asp1181=
NM_133266.5:c.3489T>C	NP_573573.2:p.Asp1163=
NR_110766.2:n.1108T>C
NM_001379226.1:c.4116T>C	NP_001366155.1:p.Asp1372=
NM_012309.5:c.5253T>C MANE Select	NP_036441.2:p.Asp1751=