Canonical Allele Identifier: CA381676926

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473436-G-T
• MyVariant Identifiers: chr11:g.70319541G>T (hg19) ; chr11:g.70473436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473436G>T , CM000673.2:g.70473436G>T	GRCh38
NC_000011.9:g.70319541G>T , CM000673.1:g.70319541G>T	GRCh37
NC_000011.8:g.69997189G>T	NCBI36
NG_042866.1:g.656361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3216C>A	ENSP00000345193.7:p.Ser1072Arg
ENST00000412252.6:c.761C>A	ENSP00000414876.2:p.Ala254Asp
ENST00000601538.6:c.4983C>A MANE Select	ENSP00000469689.2:p.Ser1661Arg
ENST00000654939.1:c.2492C>A
ENST00000656230.1:c.3846C>A	ENSP00000499561.1:p.Ser1282Arg
ENST00000659264.1:c.3273C>A	ENSP00000499270.1:p.Ser1091Arg
ENST00000338508.8:c.3219C>A	ENSP00000345193.6:p.Ser1073Arg
ENST00000357171.7:c.722C>A	ENSP00000349694.4:p.Ala241Asp
ENST00000409161.5:c.3195C>A	ENSP00000386491.1:p.Ser1065Arg
ENST00000412252.5:c.759C>A
ENST00000423696.6:c.3846C>A	ENSP00000394536.2:p.Ser1282Arg
ENST00000424924.5:c.2820C>A	ENSP00000402944.1:p.Ser940Arg
ENST00000449833.6:c.3219C>A	ENSP00000399423.3:p.Ser1073Arg
ENST00000601538.5:c.4983C>A	ENSP00000469689.2:p.Ser1661Arg
ENST00000606715.3:n.1735C>A
NM_012309.4:c.4983C>A	NP_036441.2:p.Ser1661Arg
NM_133266.4:c.3219C>A	NP_573573.2:p.Ser1073Arg
NR_110766.1:n.837C>A
XM_005277930.2:c.4983C>A	XP_005277987.1:p.Ser1661Arg
XM_005277932.2:c.3846C>A	XP_005277989.1:p.Ser1282Arg
XM_006718478.2:c.4953C>A	XP_006718541.1:p.Ser1651Arg
XM_011544854.1:c.4995C>A	XP_011543156.1:p.Ser1665Arg
XM_011544855.1:c.4974C>A	XP_011543157.1:p.Ser1658Arg
XM_011544856.1:c.4968C>A	XP_011543158.1:p.Ser1656Arg
XM_011544857.1:c.4947C>A	XP_011543159.1:p.Ser1649Arg
XM_011544859.1:c.3858C>A	XP_011543161.1:p.Ser1286Arg
XM_005277932.3:c.3846C>A	XP_005277989.1:p.Ser1282Arg
XM_017017387.1:c.4983C>A	XP_016872876.1:p.Ser1661Arg
XM_017017388.1:c.4983C>A	XP_016872877.1:p.Ser1661Arg
XM_017017389.1:c.4956C>A	XP_016872878.1:p.Ser1652Arg
XM_017017390.1:c.3273C>A	XP_016872879.1:p.Ser1091Arg
NM_133266.5:c.3219C>A	NP_573573.2:p.Ser1073Arg
NR_110766.2:n.838C>A
NM_001379226.1:c.3846C>A	NP_001366155.1:p.Ser1282Arg
NM_012309.5:c.4983C>A MANE Select	NP_036441.2:p.Ser1661Arg