Canonical Allele Identifier: CA381676417

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319436G>C (hg19) ; chr11:g.70473331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473331G>C , CM000673.2:g.70473331G>C	GRCh38
NC_000011.9:g.70319436G>C , CM000673.1:g.70319436G>C	GRCh37
NC_000011.8:g.69997084G>C	NCBI36
NG_042866.1:g.656466C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3321C>G	ENSP00000345193.7:p.Asp1107Glu
ENST00000412252.6:c.866C>G	ENSP00000414876.2:n.866C>G
ENST00000601538.6:c.5088C>G MANE Select	ENSP00000469689.2:p.Asp1696Glu
ENST00000654939.1:c.2597C>G
ENST00000656230.1:c.3951C>G	ENSP00000499561.1:p.Asp1317Glu
ENST00000659264.1:c.3378C>G	ENSP00000499270.1:p.Asp1126Glu
ENST00000338508.8:c.3324C>G	ENSP00000345193.6:p.Asp1108Glu
ENST00000357171.7:c.*92C>G	ENSP00000349694.4:n.*92C>G
ENST00000409161.5:c.3300C>G	ENSP00000386491.1:p.Asp1100Glu
ENST00000412252.5:c.864C>G
ENST00000423696.6:c.3951C>G	ENSP00000394536.2:p.Asp1317Glu
ENST00000424924.5:c.2925C>G	ENSP00000402944.1:p.Asp975Glu
ENST00000449833.6:c.3324C>G	ENSP00000399423.3:p.Asp1108Glu
ENST00000601538.5:c.5088C>G	ENSP00000469689.2:p.Asp1696Glu
ENST00000606715.3:n.1840C>G
NM_012309.4:c.5088C>G	NP_036441.2:p.Asp1696Glu
NM_133266.4:c.3324C>G	NP_573573.2:p.Asp1108Glu
NR_110766.1:n.942C>G
XM_005277930.2:c.5088C>G	XP_005277987.1:p.Asp1696Glu
XM_005277932.2:c.3951C>G	XP_005277989.1:p.Asp1317Glu
XM_006718478.2:c.5058C>G	XP_006718541.1:p.Asp1686Glu
XM_011544854.1:c.5100C>G	XP_011543156.1:p.Asp1700Glu
XM_011544855.1:c.5079C>G	XP_011543157.1:p.Asp1693Glu
XM_011544856.1:c.5073C>G	XP_011543158.1:p.Asp1691Glu
XM_011544857.1:c.5052C>G	XP_011543159.1:p.Asp1684Glu
XM_011544859.1:c.3963C>G	XP_011543161.1:p.Asp1321Glu
XM_005277932.3:c.3951C>G	XP_005277989.1:p.Asp1317Glu
XM_017017387.1:c.5088C>G	XP_016872876.1:p.Asp1696Glu
XM_017017388.1:c.5088C>G	XP_016872877.1:p.Asp1696Glu
XM_017017389.1:c.5061C>G	XP_016872878.1:p.Asp1687Glu
XM_017017390.1:c.3378C>G	XP_016872879.1:p.Asp1126Glu
NM_133266.5:c.3324C>G	NP_573573.2:p.Asp1108Glu
NR_110766.2:n.943C>G
NM_001379226.1:c.3951C>G	NP_001366155.1:p.Asp1317Glu
NM_012309.5:c.5088C>G MANE Select	NP_036441.2:p.Asp1696Glu