Canonical Allele Identifier: CA6160758

Gene: SHANK2

Linked Data

• dbSNP Id: rs782685686
• ExAC: 11:70319368 T / G
• gnomAD v2: 11-70319368-T-G
• gnomAD v3: 11-70473263-T-G
• gnomAD v4: 11-70473263-T-G
• MyVariant Identifiers: chr11:g.70319368T>G (hg19) ; chr11:g.70473263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473263T>G , CM000673.2:g.70473263T>G	GRCh38
NC_000011.9:g.70319368T>G , CM000673.1:g.70319368T>G	GRCh37
NC_000011.8:g.69997016T>G	NCBI36
NG_042866.1:g.656534A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3389A>C	ENSP00000345193.7:p.Lys1130Thr
ENST00000412252.6:c.934A>C	ENSP00000414876.2:n.934A>C
ENST00000601538.6:c.5156A>C MANE Select	ENSP00000469689.2:p.Lys1719Thr
ENST00000654939.1:c.2665A>C
ENST00000656230.1:c.4019A>C	ENSP00000499561.1:p.Lys1340Thr
ENST00000659264.1:c.3446A>C	ENSP00000499270.1:p.Lys1149Thr
ENST00000338508.8:c.3392A>C	ENSP00000345193.6:p.Lys1131Thr
ENST00000357171.7:c.*160A>C	ENSP00000349694.4:n.*160A>C
ENST00000409161.5:c.3368A>C	ENSP00000386491.1:p.Lys1123Thr
ENST00000412252.5:c.932A>C
ENST00000423696.6:c.4019A>C	ENSP00000394536.2:p.Lys1340Thr
ENST00000424924.5:c.2993A>C	ENSP00000402944.1:p.Lys998Thr
ENST00000449833.6:c.3392A>C	ENSP00000399423.3:p.Lys1131Thr
ENST00000601538.5:c.5156A>C	ENSP00000469689.2:p.Lys1719Thr
ENST00000606715.3:n.1908A>C
NM_012309.4:c.5156A>C	NP_036441.2:p.Lys1719Thr
NM_133266.4:c.3392A>C	NP_573573.2:p.Lys1131Thr
NR_110766.1:n.1010A>C
XM_005277930.2:c.5156A>C	XP_005277987.1:p.Lys1719Thr
XM_005277932.2:c.4019A>C	XP_005277989.1:p.Lys1340Thr
XM_006718478.2:c.5126A>C	XP_006718541.1:p.Lys1709Thr
XM_011544854.1:c.5168A>C	XP_011543156.1:p.Lys1723Thr
XM_011544855.1:c.5147A>C	XP_011543157.1:p.Lys1716Thr
XM_011544856.1:c.5141A>C	XP_011543158.1:p.Lys1714Thr
XM_011544857.1:c.5120A>C	XP_011543159.1:p.Lys1707Thr
XM_011544859.1:c.4031A>C	XP_011543161.1:p.Lys1344Thr
XM_005277932.3:c.4019A>C	XP_005277989.1:p.Lys1340Thr
XM_017017387.1:c.5156A>C	XP_016872876.1:p.Lys1719Thr
XM_017017388.1:c.5156A>C	XP_016872877.1:p.Lys1719Thr
XM_017017389.1:c.5129A>C	XP_016872878.1:p.Lys1710Thr
XM_017017390.1:c.3446A>C	XP_016872879.1:p.Lys1149Thr
NM_133266.5:c.3392A>C	NP_573573.2:p.Lys1131Thr
NR_110766.2:n.1011A>C
NM_001379226.1:c.4019A>C	NP_001366155.1:p.Lys1340Thr
NM_012309.5:c.5156A>C MANE Select	NP_036441.2:p.Lys1719Thr