Canonical Allele Identifier: CA381676017

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319288G>T (hg19) ; chr11:g.70473183G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473183G>T , CM000673.2:g.70473183G>T	GRCh38
NC_000011.9:g.70319288G>T , CM000673.1:g.70319288G>T	GRCh37
NC_000011.8:g.69996936G>T	NCBI36
NG_042866.1:g.656614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3469C>A	ENSP00000345193.7:p.Gln1157Lys
ENST00000412252.6:c.1014C>A	ENSP00000414876.2:n.1014C>A
ENST00000601538.6:c.5236C>A MANE Select	ENSP00000469689.2:p.Gln1746Lys
ENST00000654939.1:c.2745C>A
ENST00000656230.1:c.4099C>A	ENSP00000499561.1:p.Gln1367Lys
ENST00000659264.1:c.3526C>A	ENSP00000499270.1:p.Gln1176Lys
ENST00000338508.8:c.3472C>A	ENSP00000345193.6:p.Gln1158Lys
ENST00000357171.7:c.*240C>A	ENSP00000349694.4:n.*240C>A
ENST00000409161.5:c.3448C>A	ENSP00000386491.1:p.Gln1150Lys
ENST00000412252.5:c.1012C>A
ENST00000423696.6:c.4099C>A	ENSP00000394536.2:p.Gln1367Lys
ENST00000424924.5:c.3073C>A	ENSP00000402944.1:p.Gln1025Lys
ENST00000449833.6:c.3472C>A	ENSP00000399423.3:p.Gln1158Lys
ENST00000601538.5:c.5236C>A	ENSP00000469689.2:p.Gln1746Lys
ENST00000606715.3:n.1988C>A
NM_012309.4:c.5236C>A	NP_036441.2:p.Gln1746Lys
NM_133266.4:c.3472C>A	NP_573573.2:p.Gln1158Lys
NR_110766.1:n.1090C>A
XM_005277930.2:c.5236C>A	XP_005277987.1:p.Gln1746Lys
XM_005277932.2:c.4099C>A	XP_005277989.1:p.Gln1367Lys
XM_006718478.2:c.5206C>A	XP_006718541.1:p.Gln1736Lys
XM_011544854.1:c.5248C>A	XP_011543156.1:p.Gln1750Lys
XM_011544855.1:c.5227C>A	XP_011543157.1:p.Gln1743Lys
XM_011544856.1:c.5221C>A	XP_011543158.1:p.Gln1741Lys
XM_011544857.1:c.5200C>A	XP_011543159.1:p.Gln1734Lys
XM_011544859.1:c.4111C>A	XP_011543161.1:p.Gln1371Lys
XM_005277932.3:c.4099C>A	XP_005277989.1:p.Gln1367Lys
XM_017017387.1:c.5236C>A	XP_016872876.1:p.Gln1746Lys
XM_017017388.1:c.5236C>A	XP_016872877.1:p.Gln1746Lys
XM_017017389.1:c.5209C>A	XP_016872878.1:p.Gln1737Lys
XM_017017390.1:c.3526C>A	XP_016872879.1:p.Gln1176Lys
NM_133266.5:c.3472C>A	NP_573573.2:p.Gln1158Lys
NR_110766.2:n.1091C>A
NM_001379226.1:c.4099C>A	NP_001366155.1:p.Gln1367Lys
NM_012309.5:c.5236C>A MANE Select	NP_036441.2:p.Gln1746Lys