Canonical Allele Identifier: CA381676359

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319409T>G (hg19) ; chr11:g.70473304T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473304T>G , CM000673.2:g.70473304T>G	GRCh38
NC_000011.9:g.70319409T>G , CM000673.1:g.70319409T>G	GRCh37
NC_000011.8:g.69997057T>G	NCBI36
NG_042866.1:g.656493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3348A>C	ENSP00000345193.7:p.Arg1116Ser
ENST00000412252.6:c.893A>C	ENSP00000414876.2:n.893A>C
ENST00000601538.6:c.5115A>C MANE Select	ENSP00000469689.2:p.Arg1705Ser
ENST00000654939.1:c.2624A>C
ENST00000656230.1:c.3978A>C	ENSP00000499561.1:p.Arg1326Ser
ENST00000659264.1:c.3405A>C	ENSP00000499270.1:p.Arg1135Ser
ENST00000338508.8:c.3351A>C	ENSP00000345193.6:p.Arg1117Ser
ENST00000357171.7:c.*119A>C	ENSP00000349694.4:n.*119A>C
ENST00000409161.5:c.3327A>C	ENSP00000386491.1:p.Arg1109Ser
ENST00000412252.5:c.891A>C
ENST00000423696.6:c.3978A>C	ENSP00000394536.2:p.Arg1326Ser
ENST00000424924.5:c.2952A>C	ENSP00000402944.1:p.Arg984Ser
ENST00000449833.6:c.3351A>C	ENSP00000399423.3:p.Arg1117Ser
ENST00000601538.5:c.5115A>C	ENSP00000469689.2:p.Arg1705Ser
ENST00000606715.3:n.1867A>C
NM_012309.4:c.5115A>C	NP_036441.2:p.Arg1705Ser
NM_133266.4:c.3351A>C	NP_573573.2:p.Arg1117Ser
NR_110766.1:n.969A>C
XM_005277930.2:c.5115A>C	XP_005277987.1:p.Arg1705Ser
XM_005277932.2:c.3978A>C	XP_005277989.1:p.Arg1326Ser
XM_006718478.2:c.5085A>C	XP_006718541.1:p.Arg1695Ser
XM_011544854.1:c.5127A>C	XP_011543156.1:p.Arg1709Ser
XM_011544855.1:c.5106A>C	XP_011543157.1:p.Arg1702Ser
XM_011544856.1:c.5100A>C	XP_011543158.1:p.Arg1700Ser
XM_011544857.1:c.5079A>C	XP_011543159.1:p.Arg1693Ser
XM_011544859.1:c.3990A>C	XP_011543161.1:p.Arg1330Ser
XM_005277932.3:c.3978A>C	XP_005277989.1:p.Arg1326Ser
XM_017017387.1:c.5115A>C	XP_016872876.1:p.Arg1705Ser
XM_017017388.1:c.5115A>C	XP_016872877.1:p.Arg1705Ser
XM_017017389.1:c.5088A>C	XP_016872878.1:p.Arg1696Ser
XM_017017390.1:c.3405A>C	XP_016872879.1:p.Arg1135Ser
NM_133266.5:c.3351A>C	NP_573573.2:p.Arg1117Ser
NR_110766.2:n.970A>C
NM_001379226.1:c.3978A>C	NP_001366155.1:p.Arg1326Ser
NM_012309.5:c.5115A>C MANE Select	NP_036441.2:p.Arg1705Ser