Canonical Allele Identifier: CA231511

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 130305
• ClinVar RCV Id: RCV000118343
• dbSNP Id: rs587780459
• MyVariant Identifiers: chr11:g.70319030G>A (hg19) ; chr11:g.70472925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70472925G>A , CM000673.2:g.70472925G>A	GRCh38
NC_000011.9:g.70319030G>A , CM000673.1:g.70319030G>A	GRCh37
NC_000011.8:g.69996678G>A	NCBI36
NG_042866.1:g.656872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3727C>T	ENSP00000345193.7:p.Arg1243Ter
ENST00000412252.6:c.1272C>T	ENSP00000414876.2:n.1272C>T
ENST00000601538.6:c.5494C>T MANE Select	ENSP00000469689.2:p.Arg1832Ter
ENST00000654939.1:c.3003C>T
ENST00000656230.1:c.4357C>T	ENSP00000499561.1:p.Arg1453Ter
ENST00000659264.1:c.3784C>T	ENSP00000499270.1:p.Arg1262Ter
ENST00000338508.8:c.3730C>T	ENSP00000345193.6:p.Arg1244Ter
ENST00000357171.7:c.*498C>T	ENSP00000349694.4:n.*498C>T
ENST00000409161.5:c.3706C>T	ENSP00000386491.1:p.Arg1236Ter
ENST00000412252.5:c.1270C>T
ENST00000423696.6:c.4357C>T	ENSP00000394536.2:p.Arg1453Ter
ENST00000424924.5:c.3331C>T	ENSP00000402944.1:p.Arg1111Ter
ENST00000449833.6:c.3730C>T	ENSP00000399423.3:p.Arg1244Ter
ENST00000601538.5:c.5494C>T	ENSP00000469689.2:p.Arg1832Ter
ENST00000606715.3:n.2246C>T
NM_012309.4:c.5494C>T	NP_036441.2:p.Arg1832Ter
NM_133266.4:c.3730C>T	NP_573573.2:p.Arg1244Ter
NR_110766.1:n.1348C>T
XM_005277930.2:c.5494C>T	XP_005277987.1:p.Arg1832Ter
XM_005277932.2:c.4357C>T	XP_005277989.1:p.Arg1453Ter
XM_006718478.2:c.5464C>T	XP_006718541.1:p.Arg1822Ter
XM_011544854.1:c.5506C>T	XP_011543156.1:p.Arg1836Ter
XM_011544855.1:c.5485C>T	XP_011543157.1:p.Arg1829Ter
XM_011544856.1:c.5479C>T	XP_011543158.1:p.Arg1827Ter
XM_011544857.1:c.5458C>T	XP_011543159.1:p.Arg1820Ter
XM_011544859.1:c.4369C>T	XP_011543161.1:p.Arg1457Ter
XM_005277932.3:c.4357C>T	XP_005277989.1:p.Arg1453Ter
XM_017017387.1:c.5494C>T	XP_016872876.1:p.Arg1832Ter
XM_017017388.1:c.5494C>T	XP_016872877.1:p.Arg1832Ter
XM_017017389.1:c.5467C>T	XP_016872878.1:p.Arg1823Ter
XM_017017390.1:c.3784C>T	XP_016872879.1:p.Arg1262Ter
NM_133266.5:c.3730C>T	NP_573573.2:p.Arg1244Ter
NR_110766.2:n.1349C>T
NM_001379226.1:c.4357C>T	NP_001366155.1:p.Arg1453Ter
NM_012309.5:c.5494C>T MANE Select	NP_036441.2:p.Arg1832Ter