Canonical Allele Identifier: CA381675904

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473162-A-G
• MyVariant Identifiers: chr11:g.70319267A>G (hg19) ; chr11:g.70473162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473162A>G , CM000673.2:g.70473162A>G	GRCh38
NC_000011.9:g.70319267A>G , CM000673.1:g.70319267A>G	GRCh37
NC_000011.8:g.69996915A>G	NCBI36
NG_042866.1:g.656635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3490T>C	ENSP00000345193.7:p.Phe1164Leu
ENST00000412252.6:c.1035T>C	ENSP00000414876.2:n.1035T>C
ENST00000601538.6:c.5257T>C MANE Select	ENSP00000469689.2:p.Phe1753Leu
ENST00000654939.1:c.2766T>C
ENST00000656230.1:c.4120T>C	ENSP00000499561.1:p.Phe1374Leu
ENST00000659264.1:c.3547T>C	ENSP00000499270.1:p.Phe1183Leu
ENST00000338508.8:c.3493T>C	ENSP00000345193.6:p.Phe1165Leu
ENST00000357171.7:c.*261T>C	ENSP00000349694.4:n.*261T>C
ENST00000409161.5:c.3469T>C	ENSP00000386491.1:p.Phe1157Leu
ENST00000412252.5:c.1033T>C
ENST00000423696.6:c.4120T>C	ENSP00000394536.2:p.Phe1374Leu
ENST00000424924.5:c.3094T>C	ENSP00000402944.1:p.Phe1032Leu
ENST00000449833.6:c.3493T>C	ENSP00000399423.3:p.Phe1165Leu
ENST00000601538.5:c.5257T>C	ENSP00000469689.2:p.Phe1753Leu
ENST00000606715.3:n.2009T>C
NM_012309.4:c.5257T>C	NP_036441.2:p.Phe1753Leu
NM_133266.4:c.3493T>C	NP_573573.2:p.Phe1165Leu
NR_110766.1:n.1111T>C
XM_005277930.2:c.5257T>C	XP_005277987.1:p.Phe1753Leu
XM_005277932.2:c.4120T>C	XP_005277989.1:p.Phe1374Leu
XM_006718478.2:c.5227T>C	XP_006718541.1:p.Phe1743Leu
XM_011544854.1:c.5269T>C	XP_011543156.1:p.Phe1757Leu
XM_011544855.1:c.5248T>C	XP_011543157.1:p.Phe1750Leu
XM_011544856.1:c.5242T>C	XP_011543158.1:p.Phe1748Leu
XM_011544857.1:c.5221T>C	XP_011543159.1:p.Phe1741Leu
XM_011544859.1:c.4132T>C	XP_011543161.1:p.Phe1378Leu
XM_005277932.3:c.4120T>C	XP_005277989.1:p.Phe1374Leu
XM_017017387.1:c.5257T>C	XP_016872876.1:p.Phe1753Leu
XM_017017388.1:c.5257T>C	XP_016872877.1:p.Phe1753Leu
XM_017017389.1:c.5230T>C	XP_016872878.1:p.Phe1744Leu
XM_017017390.1:c.3547T>C	XP_016872879.1:p.Phe1183Leu
NM_133266.5:c.3493T>C	NP_573573.2:p.Phe1165Leu
NR_110766.2:n.1112T>C
NM_001379226.1:c.4120T>C	NP_001366155.1:p.Phe1374Leu
NM_012309.5:c.5257T>C MANE Select	NP_036441.2:p.Phe1753Leu