Canonical Allele Identifier: CA381676229

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473239-G-A
• MyVariant Identifiers: chr11:g.70319344G>A (hg19) ; chr11:g.70473239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473239G>A , CM000673.2:g.70473239G>A	GRCh38
NC_000011.9:g.70319344G>A , CM000673.1:g.70319344G>A	GRCh37
NC_000011.8:g.69996992G>A	NCBI36
NG_042866.1:g.656558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3413C>T	ENSP00000345193.7:p.Ser1138Phe
ENST00000412252.6:c.958C>T	ENSP00000414876.2:n.958C>T
ENST00000601538.6:c.5180C>T MANE Select	ENSP00000469689.2:p.Ser1727Phe
ENST00000654939.1:c.2689C>T
ENST00000656230.1:c.4043C>T	ENSP00000499561.1:p.Ser1348Phe
ENST00000659264.1:c.3470C>T	ENSP00000499270.1:p.Ser1157Phe
ENST00000338508.8:c.3416C>T	ENSP00000345193.6:p.Ser1139Phe
ENST00000357171.7:c.*184C>T	ENSP00000349694.4:n.*184C>T
ENST00000409161.5:c.3392C>T	ENSP00000386491.1:p.Ser1131Phe
ENST00000412252.5:c.956C>T
ENST00000423696.6:c.4043C>T	ENSP00000394536.2:p.Ser1348Phe
ENST00000424924.5:c.3017C>T	ENSP00000402944.1:p.Ser1006Phe
ENST00000449833.6:c.3416C>T	ENSP00000399423.3:p.Ser1139Phe
ENST00000601538.5:c.5180C>T	ENSP00000469689.2:p.Ser1727Phe
ENST00000606715.3:n.1932C>T
NM_012309.4:c.5180C>T	NP_036441.2:p.Ser1727Phe
NM_133266.4:c.3416C>T	NP_573573.2:p.Ser1139Phe
NR_110766.1:n.1034C>T
XM_005277930.2:c.5180C>T	XP_005277987.1:p.Ser1727Phe
XM_005277932.2:c.4043C>T	XP_005277989.1:p.Ser1348Phe
XM_006718478.2:c.5150C>T	XP_006718541.1:p.Ser1717Phe
XM_011544854.1:c.5192C>T	XP_011543156.1:p.Ser1731Phe
XM_011544855.1:c.5171C>T	XP_011543157.1:p.Ser1724Phe
XM_011544856.1:c.5165C>T	XP_011543158.1:p.Ser1722Phe
XM_011544857.1:c.5144C>T	XP_011543159.1:p.Ser1715Phe
XM_011544859.1:c.4055C>T	XP_011543161.1:p.Ser1352Phe
XM_005277932.3:c.4043C>T	XP_005277989.1:p.Ser1348Phe
XM_017017387.1:c.5180C>T	XP_016872876.1:p.Ser1727Phe
XM_017017388.1:c.5180C>T	XP_016872877.1:p.Ser1727Phe
XM_017017389.1:c.5153C>T	XP_016872878.1:p.Ser1718Phe
XM_017017390.1:c.3470C>T	XP_016872879.1:p.Ser1157Phe
NM_133266.5:c.3416C>T	NP_573573.2:p.Ser1139Phe
NR_110766.2:n.1035C>T
NM_001379226.1:c.4043C>T	NP_001366155.1:p.Ser1348Phe
NM_012309.5:c.5180C>T MANE Select	NP_036441.2:p.Ser1727Phe