Canonical Allele Identifier: CA381676364

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473306-T-C
• MyVariant Identifiers: chr11:g.70319411T>C (hg19) ; chr11:g.70473306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473306T>C , CM000673.2:g.70473306T>C	GRCh38
NC_000011.9:g.70319411T>C , CM000673.1:g.70319411T>C	GRCh37
NC_000011.8:g.69997059T>C	NCBI36
NG_042866.1:g.656491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3346A>G	ENSP00000345193.7:p.Arg1116Gly
ENST00000412252.6:c.891A>G	ENSP00000414876.2:n.891A>G
ENST00000601538.6:c.5113A>G MANE Select	ENSP00000469689.2:p.Arg1705Gly
ENST00000654939.1:c.2622A>G
ENST00000656230.1:c.3976A>G	ENSP00000499561.1:p.Arg1326Gly
ENST00000659264.1:c.3403A>G	ENSP00000499270.1:p.Arg1135Gly
ENST00000338508.8:c.3349A>G	ENSP00000345193.6:p.Arg1117Gly
ENST00000357171.7:c.*117A>G	ENSP00000349694.4:n.*117A>G
ENST00000409161.5:c.3325A>G	ENSP00000386491.1:p.Arg1109Gly
ENST00000412252.5:c.889A>G
ENST00000423696.6:c.3976A>G	ENSP00000394536.2:p.Arg1326Gly
ENST00000424924.5:c.2950A>G	ENSP00000402944.1:p.Arg984Gly
ENST00000449833.6:c.3349A>G	ENSP00000399423.3:p.Arg1117Gly
ENST00000601538.5:c.5113A>G	ENSP00000469689.2:p.Arg1705Gly
ENST00000606715.3:n.1865A>G
NM_012309.4:c.5113A>G	NP_036441.2:p.Arg1705Gly
NM_133266.4:c.3349A>G	NP_573573.2:p.Arg1117Gly
NR_110766.1:n.967A>G
XM_005277930.2:c.5113A>G	XP_005277987.1:p.Arg1705Gly
XM_005277932.2:c.3976A>G	XP_005277989.1:p.Arg1326Gly
XM_006718478.2:c.5083A>G	XP_006718541.1:p.Arg1695Gly
XM_011544854.1:c.5125A>G	XP_011543156.1:p.Arg1709Gly
XM_011544855.1:c.5104A>G	XP_011543157.1:p.Arg1702Gly
XM_011544856.1:c.5098A>G	XP_011543158.1:p.Arg1700Gly
XM_011544857.1:c.5077A>G	XP_011543159.1:p.Arg1693Gly
XM_011544859.1:c.3988A>G	XP_011543161.1:p.Arg1330Gly
XM_005277932.3:c.3976A>G	XP_005277989.1:p.Arg1326Gly
XM_017017387.1:c.5113A>G	XP_016872876.1:p.Arg1705Gly
XM_017017388.1:c.5113A>G	XP_016872877.1:p.Arg1705Gly
XM_017017389.1:c.5086A>G	XP_016872878.1:p.Arg1696Gly
XM_017017390.1:c.3403A>G	XP_016872879.1:p.Arg1135Gly
NM_133266.5:c.3349A>G	NP_573573.2:p.Arg1117Gly
NR_110766.2:n.968A>G
NM_001379226.1:c.3976A>G	NP_001366155.1:p.Arg1326Gly
NM_012309.5:c.5113A>G MANE Select	NP_036441.2:p.Arg1705Gly