Canonical Allele Identifier: CA381675679

Gene: SHANK2

Linked Data

• dbSNP Id: rs1555149076
• gnomAD v2: 11-70319225-A-G
• MyVariant Identifiers: chr11:g.70319225A>G (hg19) ; chr11:g.70473120A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473120A>G , CM000673.2:g.70473120A>G	GRCh38
NC_000011.9:g.70319225A>G , CM000673.1:g.70319225A>G	GRCh37
NC_000011.8:g.69996873A>G	NCBI36
NG_042866.1:g.656677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3532T>C	ENSP00000345193.7:p.Ser1178Pro
ENST00000412252.6:c.1077T>C	ENSP00000414876.2:n.1077T>C
ENST00000601538.6:c.5299T>C MANE Select	ENSP00000469689.2:p.Ser1767Pro
ENST00000654939.1:c.2808T>C
ENST00000656230.1:c.4162T>C	ENSP00000499561.1:p.Ser1388Pro
ENST00000659264.1:c.3589T>C	ENSP00000499270.1:p.Ser1197Pro
ENST00000338508.8:c.3535T>C	ENSP00000345193.6:p.Ser1179Pro
ENST00000357171.7:c.*303T>C	ENSP00000349694.4:n.*303T>C
ENST00000409161.5:c.3511T>C	ENSP00000386491.1:p.Ser1171Pro
ENST00000412252.5:c.1075T>C
ENST00000423696.6:c.4162T>C	ENSP00000394536.2:p.Ser1388Pro
ENST00000424924.5:c.3136T>C	ENSP00000402944.1:p.Ser1046Pro
ENST00000449833.6:c.3535T>C	ENSP00000399423.3:p.Ser1179Pro
ENST00000601538.5:c.5299T>C	ENSP00000469689.2:p.Ser1767Pro
ENST00000606715.3:n.2051T>C
NM_012309.4:c.5299T>C	NP_036441.2:p.Ser1767Pro
NM_133266.4:c.3535T>C	NP_573573.2:p.Ser1179Pro
NR_110766.1:n.1153T>C
XM_005277930.2:c.5299T>C	XP_005277987.1:p.Ser1767Pro
XM_005277932.2:c.4162T>C	XP_005277989.1:p.Ser1388Pro
XM_006718478.2:c.5269T>C	XP_006718541.1:p.Ser1757Pro
XM_011544854.1:c.5311T>C	XP_011543156.1:p.Ser1771Pro
XM_011544855.1:c.5290T>C	XP_011543157.1:p.Ser1764Pro
XM_011544856.1:c.5284T>C	XP_011543158.1:p.Ser1762Pro
XM_011544857.1:c.5263T>C	XP_011543159.1:p.Ser1755Pro
XM_011544859.1:c.4174T>C	XP_011543161.1:p.Ser1392Pro
XM_005277932.3:c.4162T>C	XP_005277989.1:p.Ser1388Pro
XM_017017387.1:c.5299T>C	XP_016872876.1:p.Ser1767Pro
XM_017017388.1:c.5299T>C	XP_016872877.1:p.Ser1767Pro
XM_017017389.1:c.5272T>C	XP_016872878.1:p.Ser1758Pro
XM_017017390.1:c.3589T>C	XP_016872879.1:p.Ser1197Pro
NM_133266.5:c.3535T>C	NP_573573.2:p.Ser1179Pro
NR_110766.2:n.1154T>C
NM_001379226.1:c.4162T>C	NP_001366155.1:p.Ser1388Pro
NM_012309.5:c.5299T>C MANE Select	NP_036441.2:p.Ser1767Pro