Canonical Allele Identifier: CA381683677

Gene: SHANK2

Linked Data

• dbSNP Id: rs2058799625
• gnomAD v3: 11-70486100-G-T
• gnomAD v4: 11-70486100-G-T
• MyVariant Identifiers: chr11:g.70332205G>T (hg19) ; chr11:g.70486100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486100G>T , CM000673.2:g.70486100G>T	GRCh38
NC_000011.9:g.70332205G>T , CM000673.1:g.70332205G>T	GRCh37
NC_000011.8:g.70009853G>T	NCBI36
NG_042866.1:g.643697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2426C>A	ENSP00000345193.7:p.Ser809Tyr
ENST00000412252.6:c.757+4203C>A	ENSP00000414876.2:n.757+4203C>A
ENST00000601538.6:c.4193C>A MANE Select	ENSP00000469689.2:p.Ser1398Tyr
ENST00000654939.1:c.1621C>A
ENST00000656230.1:c.3056C>A	ENSP00000499561.1:p.Ser1019Tyr
ENST00000659264.1:c.2483C>A	ENSP00000499270.1:p.Ser828Tyr
ENST00000338508.8:c.2429C>A	ENSP00000345193.6:p.Ser810Tyr
ENST00000357171.7:c.718+4203C>A	ENSP00000349694.4:n.718+4203C>A
ENST00000409161.5:c.2405C>A	ENSP00000386491.1:p.Ser802Tyr
ENST00000412252.5:c.755+4203C>A
ENST00000423696.6:c.3056C>A	ENSP00000394536.2:p.Ser1019Tyr
ENST00000424924.5:c.2030C>A	ENSP00000402944.1:p.Ser677Tyr
ENST00000449833.6:c.2429C>A	ENSP00000399423.3:p.Ser810Tyr
ENST00000601538.5:c.4193C>A	ENSP00000469689.2:p.Ser1398Tyr
NM_012309.4:c.4193C>A	NP_036441.2:p.Ser1398Tyr
NM_133266.4:c.2429C>A	NP_573573.2:p.Ser810Tyr
NR_110766.1:n.833+4203C>A
XM_005277930.2:c.4193C>A	XP_005277987.1:p.Ser1398Tyr
XM_005277932.2:c.3056C>A	XP_005277989.1:p.Ser1019Tyr
XM_006718478.2:c.4163C>A	XP_006718541.1:p.Ser1388Tyr
XM_011544854.1:c.4205C>A	XP_011543156.1:p.Ser1402Tyr
XM_011544855.1:c.4184C>A	XP_011543157.1:p.Ser1395Tyr
XM_011544856.1:c.4178C>A	XP_011543158.1:p.Ser1393Tyr
XM_011544857.1:c.4157C>A	XP_011543159.1:p.Ser1386Tyr
XM_011544858.1:c.4205C>A	XP_011543160.1:p.Ser1402Tyr
XM_011544859.1:c.3068C>A	XP_011543161.1:p.Ser1023Tyr
XM_005277932.3:c.3056C>A	XP_005277989.1:p.Ser1019Tyr
XM_017017387.1:c.4193C>A	XP_016872876.1:p.Ser1398Tyr
XM_017017388.1:c.4193C>A	XP_016872877.1:p.Ser1398Tyr
XM_017017389.1:c.4166C>A	XP_016872878.1:p.Ser1389Tyr
XM_017017390.1:c.2483C>A	XP_016872879.1:p.Ser828Tyr
NM_133266.5:c.2429C>A	NP_573573.2:p.Ser810Tyr
NR_110766.2:n.834+4203C>A
NM_001379226.1:c.3056C>A	NP_001366155.1:p.Ser1019Tyr
NM_012309.5:c.4193C>A MANE Select	NP_036441.2:p.Ser1398Tyr