Canonical Allele Identifier: CA381683143

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332133T>C (hg19) ; chr11:g.70486028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486028T>C , CM000673.2:g.70486028T>C	GRCh38
NC_000011.9:g.70332133T>C , CM000673.1:g.70332133T>C	GRCh37
NC_000011.8:g.70009781T>C	NCBI36
NG_042866.1:g.643769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2498A>G	ENSP00000345193.7:p.Asp833Gly
ENST00000412252.6:c.757+4275A>G	ENSP00000414876.2:n.757+4275A>G
ENST00000601538.6:c.4265A>G MANE Select	ENSP00000469689.2:p.Asp1422Gly
ENST00000654939.1:c.1693A>G
ENST00000656230.1:c.3128A>G	ENSP00000499561.1:p.Asp1043Gly
ENST00000659264.1:c.2555A>G	ENSP00000499270.1:p.Asp852Gly
ENST00000338508.8:c.2501A>G	ENSP00000345193.6:p.Asp834Gly
ENST00000357171.7:c.718+4275A>G	ENSP00000349694.4:n.718+4275A>G
ENST00000409161.5:c.2477A>G	ENSP00000386491.1:p.Asp826Gly
ENST00000412252.5:c.755+4275A>G
ENST00000423696.6:c.3128A>G	ENSP00000394536.2:p.Asp1043Gly
ENST00000424924.5:c.2102A>G	ENSP00000402944.1:p.Asp701Gly
ENST00000449833.6:c.2501A>G	ENSP00000399423.3:p.Asp834Gly
ENST00000601538.5:c.4265A>G	ENSP00000469689.2:p.Asp1422Gly
NM_012309.4:c.4265A>G	NP_036441.2:p.Asp1422Gly
NM_133266.4:c.2501A>G	NP_573573.2:p.Asp834Gly
NR_110766.1:n.833+4275A>G
XM_005277930.2:c.4265A>G	XP_005277987.1:p.Asp1422Gly
XM_005277932.2:c.3128A>G	XP_005277989.1:p.Asp1043Gly
XM_006718478.2:c.4235A>G	XP_006718541.1:p.Asp1412Gly
XM_011544854.1:c.4277A>G	XP_011543156.1:p.Asp1426Gly
XM_011544855.1:c.4256A>G	XP_011543157.1:p.Asp1419Gly
XM_011544856.1:c.4250A>G	XP_011543158.1:p.Asp1417Gly
XM_011544857.1:c.4229A>G	XP_011543159.1:p.Asp1410Gly
XM_011544858.1:c.4277A>G	XP_011543160.1:p.Asp1426Gly
XM_011544859.1:c.3140A>G	XP_011543161.1:p.Asp1047Gly
XM_005277932.3:c.3128A>G	XP_005277989.1:p.Asp1043Gly
XM_017017387.1:c.4265A>G	XP_016872876.1:p.Asp1422Gly
XM_017017388.1:c.4265A>G	XP_016872877.1:p.Asp1422Gly
XM_017017389.1:c.4238A>G	XP_016872878.1:p.Asp1413Gly
XM_017017390.1:c.2555A>G	XP_016872879.1:p.Asp852Gly
NM_133266.5:c.2501A>G	NP_573573.2:p.Asp834Gly
NR_110766.2:n.834+4275A>G
NM_001379226.1:c.3128A>G	NP_001366155.1:p.Asp1043Gly
NM_012309.5:c.4265A>G MANE Select	NP_036441.2:p.Asp1422Gly