Canonical Allele Identifier: CA381676763

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319513T>G (hg19) ; chr11:g.70473408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473408T>G , CM000673.2:g.70473408T>G	GRCh38
NC_000011.9:g.70319513T>G , CM000673.1:g.70319513T>G	GRCh37
NC_000011.8:g.69997161T>G	NCBI36
NG_042866.1:g.656389A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3244A>C	ENSP00000345193.7:p.Thr1082Pro
ENST00000412252.6:c.789A>C	ENSP00000414876.2:n.789A>C
ENST00000601538.6:c.5011A>C MANE Select	ENSP00000469689.2:p.Thr1671Pro
ENST00000654939.1:c.2520A>C
ENST00000656230.1:c.3874A>C	ENSP00000499561.1:p.Thr1292Pro
ENST00000659264.1:c.3301A>C	ENSP00000499270.1:p.Thr1101Pro
ENST00000338508.8:c.3247A>C	ENSP00000345193.6:p.Thr1083Pro
ENST00000357171.7:c.*15A>C	ENSP00000349694.4:n.*15A>C
ENST00000409161.5:c.3223A>C	ENSP00000386491.1:p.Thr1075Pro
ENST00000412252.5:c.787A>C
ENST00000423696.6:c.3874A>C	ENSP00000394536.2:p.Thr1292Pro
ENST00000424924.5:c.2848A>C	ENSP00000402944.1:p.Thr950Pro
ENST00000449833.6:c.3247A>C	ENSP00000399423.3:p.Thr1083Pro
ENST00000601538.5:c.5011A>C	ENSP00000469689.2:p.Thr1671Pro
ENST00000606715.3:n.1763A>C
NM_012309.4:c.5011A>C	NP_036441.2:p.Thr1671Pro
NM_133266.4:c.3247A>C	NP_573573.2:p.Thr1083Pro
NR_110766.1:n.865A>C
XM_005277930.2:c.5011A>C	XP_005277987.1:p.Thr1671Pro
XM_005277932.2:c.3874A>C	XP_005277989.1:p.Thr1292Pro
XM_006718478.2:c.4981A>C	XP_006718541.1:p.Thr1661Pro
XM_011544854.1:c.5023A>C	XP_011543156.1:p.Thr1675Pro
XM_011544855.1:c.5002A>C	XP_011543157.1:p.Thr1668Pro
XM_011544856.1:c.4996A>C	XP_011543158.1:p.Thr1666Pro
XM_011544857.1:c.4975A>C	XP_011543159.1:p.Thr1659Pro
XM_011544859.1:c.3886A>C	XP_011543161.1:p.Thr1296Pro
XM_005277932.3:c.3874A>C	XP_005277989.1:p.Thr1292Pro
XM_017017387.1:c.5011A>C	XP_016872876.1:p.Thr1671Pro
XM_017017388.1:c.5011A>C	XP_016872877.1:p.Thr1671Pro
XM_017017389.1:c.4984A>C	XP_016872878.1:p.Thr1662Pro
XM_017017390.1:c.3301A>C	XP_016872879.1:p.Thr1101Pro
NM_133266.5:c.3247A>C	NP_573573.2:p.Thr1083Pro
NR_110766.2:n.866A>C
NM_001379226.1:c.3874A>C	NP_001366155.1:p.Thr1292Pro
NM_012309.5:c.5011A>C MANE Select	NP_036441.2:p.Thr1671Pro