Canonical Allele Identifier: CA381675924

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473167-T-A
• MyVariant Identifiers: chr11:g.70319272T>A (hg19) ; chr11:g.70473167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473167T>A , CM000673.2:g.70473167T>A	GRCh38
NC_000011.9:g.70319272T>A , CM000673.1:g.70319272T>A	GRCh37
NC_000011.8:g.69996920T>A	NCBI36
NG_042866.1:g.656630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3485A>T	ENSP00000345193.7:p.Asp1162Val
ENST00000412252.6:c.1030A>T	ENSP00000414876.2:n.1030A>T
ENST00000601538.6:c.5252A>T MANE Select	ENSP00000469689.2:p.Asp1751Val
ENST00000654939.1:c.2761A>T
ENST00000656230.1:c.4115A>T	ENSP00000499561.1:p.Asp1372Val
ENST00000659264.1:c.3542A>T	ENSP00000499270.1:p.Asp1181Val
ENST00000338508.8:c.3488A>T	ENSP00000345193.6:p.Asp1163Val
ENST00000357171.7:c.*256A>T	ENSP00000349694.4:n.*256A>T
ENST00000409161.5:c.3464A>T	ENSP00000386491.1:p.Asp1155Val
ENST00000412252.5:c.1028A>T
ENST00000423696.6:c.4115A>T	ENSP00000394536.2:p.Asp1372Val
ENST00000424924.5:c.3089A>T	ENSP00000402944.1:p.Asp1030Val
ENST00000449833.6:c.3488A>T	ENSP00000399423.3:p.Asp1163Val
ENST00000601538.5:c.5252A>T	ENSP00000469689.2:p.Asp1751Val
ENST00000606715.3:n.2004A>T
NM_012309.4:c.5252A>T	NP_036441.2:p.Asp1751Val
NM_133266.4:c.3488A>T	NP_573573.2:p.Asp1163Val
NR_110766.1:n.1106A>T
XM_005277930.2:c.5252A>T	XP_005277987.1:p.Asp1751Val
XM_005277932.2:c.4115A>T	XP_005277989.1:p.Asp1372Val
XM_006718478.2:c.5222A>T	XP_006718541.1:p.Asp1741Val
XM_011544854.1:c.5264A>T	XP_011543156.1:p.Asp1755Val
XM_011544855.1:c.5243A>T	XP_011543157.1:p.Asp1748Val
XM_011544856.1:c.5237A>T	XP_011543158.1:p.Asp1746Val
XM_011544857.1:c.5216A>T	XP_011543159.1:p.Asp1739Val
XM_011544859.1:c.4127A>T	XP_011543161.1:p.Asp1376Val
XM_005277932.3:c.4115A>T	XP_005277989.1:p.Asp1372Val
XM_017017387.1:c.5252A>T	XP_016872876.1:p.Asp1751Val
XM_017017388.1:c.5252A>T	XP_016872877.1:p.Asp1751Val
XM_017017389.1:c.5225A>T	XP_016872878.1:p.Asp1742Val
XM_017017390.1:c.3542A>T	XP_016872879.1:p.Asp1181Val
NM_133266.5:c.3488A>T	NP_573573.2:p.Asp1163Val
NR_110766.2:n.1107A>T
NM_001379226.1:c.4115A>T	NP_001366155.1:p.Asp1372Val
NM_012309.5:c.5252A>T MANE Select	NP_036441.2:p.Asp1751Val