Canonical Allele Identifier: CA381676234

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473240-A-T
• MyVariant Identifiers: chr11:g.70319345A>T (hg19) ; chr11:g.70473240A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473240A>T , CM000673.2:g.70473240A>T	GRCh38
NC_000011.9:g.70319345A>T , CM000673.1:g.70319345A>T	GRCh37
NC_000011.8:g.69996993A>T	NCBI36
NG_042866.1:g.656557T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3412T>A	ENSP00000345193.7:p.Ser1138Thr
ENST00000412252.6:c.957T>A	ENSP00000414876.2:n.957T>A
ENST00000601538.6:c.5179T>A MANE Select	ENSP00000469689.2:p.Ser1727Thr
ENST00000654939.1:c.2688T>A
ENST00000656230.1:c.4042T>A	ENSP00000499561.1:p.Ser1348Thr
ENST00000659264.1:c.3469T>A	ENSP00000499270.1:p.Ser1157Thr
ENST00000338508.8:c.3415T>A	ENSP00000345193.6:p.Ser1139Thr
ENST00000357171.7:c.*183T>A	ENSP00000349694.4:n.*183T>A
ENST00000409161.5:c.3391T>A	ENSP00000386491.1:p.Ser1131Thr
ENST00000412252.5:c.955T>A
ENST00000423696.6:c.4042T>A	ENSP00000394536.2:p.Ser1348Thr
ENST00000424924.5:c.3016T>A	ENSP00000402944.1:p.Ser1006Thr
ENST00000449833.6:c.3415T>A	ENSP00000399423.3:p.Ser1139Thr
ENST00000601538.5:c.5179T>A	ENSP00000469689.2:p.Ser1727Thr
ENST00000606715.3:n.1931T>A
NM_012309.4:c.5179T>A	NP_036441.2:p.Ser1727Thr
NM_133266.4:c.3415T>A	NP_573573.2:p.Ser1139Thr
NR_110766.1:n.1033T>A
XM_005277930.2:c.5179T>A	XP_005277987.1:p.Ser1727Thr
XM_005277932.2:c.4042T>A	XP_005277989.1:p.Ser1348Thr
XM_006718478.2:c.5149T>A	XP_006718541.1:p.Ser1717Thr
XM_011544854.1:c.5191T>A	XP_011543156.1:p.Ser1731Thr
XM_011544855.1:c.5170T>A	XP_011543157.1:p.Ser1724Thr
XM_011544856.1:c.5164T>A	XP_011543158.1:p.Ser1722Thr
XM_011544857.1:c.5143T>A	XP_011543159.1:p.Ser1715Thr
XM_011544859.1:c.4054T>A	XP_011543161.1:p.Ser1352Thr
XM_005277932.3:c.4042T>A	XP_005277989.1:p.Ser1348Thr
XM_017017387.1:c.5179T>A	XP_016872876.1:p.Ser1727Thr
XM_017017388.1:c.5179T>A	XP_016872877.1:p.Ser1727Thr
XM_017017389.1:c.5152T>A	XP_016872878.1:p.Ser1718Thr
XM_017017390.1:c.3469T>A	XP_016872879.1:p.Ser1157Thr
NM_133266.5:c.3415T>A	NP_573573.2:p.Ser1139Thr
NR_110766.2:n.1034T>A
NM_001379226.1:c.4042T>A	NP_001366155.1:p.Ser1348Thr
NM_012309.5:c.5179T>A MANE Select	NP_036441.2:p.Ser1727Thr