Canonical Allele Identifier: CA381676271

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319366C>T (hg19) ; chr11:g.70473261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473261C>T , CM000673.2:g.70473261C>T	GRCh38
NC_000011.9:g.70319366C>T , CM000673.1:g.70319366C>T	GRCh37
NC_000011.8:g.69997014C>T	NCBI36
NG_042866.1:g.656536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3391G>A	ENSP00000345193.7:p.Glu1131Lys
ENST00000412252.6:c.936G>A	ENSP00000414876.2:n.936G>A
ENST00000601538.6:c.5158G>A MANE Select	ENSP00000469689.2:p.Glu1720Lys
ENST00000654939.1:c.2667G>A
ENST00000656230.1:c.4021G>A	ENSP00000499561.1:p.Glu1341Lys
ENST00000659264.1:c.3448G>A	ENSP00000499270.1:p.Glu1150Lys
ENST00000338508.8:c.3394G>A	ENSP00000345193.6:p.Glu1132Lys
ENST00000357171.7:c.*162G>A	ENSP00000349694.4:n.*162G>A
ENST00000409161.5:c.3370G>A	ENSP00000386491.1:p.Glu1124Lys
ENST00000412252.5:c.934G>A
ENST00000423696.6:c.4021G>A	ENSP00000394536.2:p.Glu1341Lys
ENST00000424924.5:c.2995G>A	ENSP00000402944.1:p.Glu999Lys
ENST00000449833.6:c.3394G>A	ENSP00000399423.3:p.Glu1132Lys
ENST00000601538.5:c.5158G>A	ENSP00000469689.2:p.Glu1720Lys
ENST00000606715.3:n.1910G>A
NM_012309.4:c.5158G>A	NP_036441.2:p.Glu1720Lys
NM_133266.4:c.3394G>A	NP_573573.2:p.Glu1132Lys
NR_110766.1:n.1012G>A
XM_005277930.2:c.5158G>A	XP_005277987.1:p.Glu1720Lys
XM_005277932.2:c.4021G>A	XP_005277989.1:p.Glu1341Lys
XM_006718478.2:c.5128G>A	XP_006718541.1:p.Glu1710Lys
XM_011544854.1:c.5170G>A	XP_011543156.1:p.Glu1724Lys
XM_011544855.1:c.5149G>A	XP_011543157.1:p.Glu1717Lys
XM_011544856.1:c.5143G>A	XP_011543158.1:p.Glu1715Lys
XM_011544857.1:c.5122G>A	XP_011543159.1:p.Glu1708Lys
XM_011544859.1:c.4033G>A	XP_011543161.1:p.Glu1345Lys
XM_005277932.3:c.4021G>A	XP_005277989.1:p.Glu1341Lys
XM_017017387.1:c.5158G>A	XP_016872876.1:p.Glu1720Lys
XM_017017388.1:c.5158G>A	XP_016872877.1:p.Glu1720Lys
XM_017017389.1:c.5131G>A	XP_016872878.1:p.Glu1711Lys
XM_017017390.1:c.3448G>A	XP_016872879.1:p.Glu1150Lys
NM_133266.5:c.3394G>A	NP_573573.2:p.Glu1132Lys
NR_110766.2:n.1013G>A
NM_001379226.1:c.4021G>A	NP_001366155.1:p.Glu1341Lys
NM_012309.5:c.5158G>A MANE Select	NP_036441.2:p.Glu1720Lys