Canonical Allele Identifier: CA381676742

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319507T>G (hg19) ; chr11:g.70473402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473402T>G , CM000673.2:g.70473402T>G	GRCh38
NC_000011.9:g.70319507T>G , CM000673.1:g.70319507T>G	GRCh37
NC_000011.8:g.69997155T>G	NCBI36
NG_042866.1:g.656395A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3250A>C	ENSP00000345193.7:p.Ser1084Arg
ENST00000412252.6:c.795A>C	ENSP00000414876.2:n.795A>C
ENST00000601538.6:c.5017A>C MANE Select	ENSP00000469689.2:p.Ser1673Arg
ENST00000654939.1:c.2526A>C
ENST00000656230.1:c.3880A>C	ENSP00000499561.1:p.Ser1294Arg
ENST00000659264.1:c.3307A>C	ENSP00000499270.1:p.Ser1103Arg
ENST00000338508.8:c.3253A>C	ENSP00000345193.6:p.Ser1085Arg
ENST00000357171.7:c.*21A>C	ENSP00000349694.4:n.*21A>C
ENST00000409161.5:c.3229A>C	ENSP00000386491.1:p.Ser1077Arg
ENST00000412252.5:c.793A>C
ENST00000423696.6:c.3880A>C	ENSP00000394536.2:p.Ser1294Arg
ENST00000424924.5:c.2854A>C	ENSP00000402944.1:p.Ser952Arg
ENST00000449833.6:c.3253A>C	ENSP00000399423.3:p.Ser1085Arg
ENST00000601538.5:c.5017A>C	ENSP00000469689.2:p.Ser1673Arg
ENST00000606715.3:n.1769A>C
NM_012309.4:c.5017A>C	NP_036441.2:p.Ser1673Arg
NM_133266.4:c.3253A>C	NP_573573.2:p.Ser1085Arg
NR_110766.1:n.871A>C
XM_005277930.2:c.5017A>C	XP_005277987.1:p.Ser1673Arg
XM_005277932.2:c.3880A>C	XP_005277989.1:p.Ser1294Arg
XM_006718478.2:c.4987A>C	XP_006718541.1:p.Ser1663Arg
XM_011544854.1:c.5029A>C	XP_011543156.1:p.Ser1677Arg
XM_011544855.1:c.5008A>C	XP_011543157.1:p.Ser1670Arg
XM_011544856.1:c.5002A>C	XP_011543158.1:p.Ser1668Arg
XM_011544857.1:c.4981A>C	XP_011543159.1:p.Ser1661Arg
XM_011544859.1:c.3892A>C	XP_011543161.1:p.Ser1298Arg
XM_005277932.3:c.3880A>C	XP_005277989.1:p.Ser1294Arg
XM_017017387.1:c.5017A>C	XP_016872876.1:p.Ser1673Arg
XM_017017388.1:c.5017A>C	XP_016872877.1:p.Ser1673Arg
XM_017017389.1:c.4990A>C	XP_016872878.1:p.Ser1664Arg
XM_017017390.1:c.3307A>C	XP_016872879.1:p.Ser1103Arg
NM_133266.5:c.3253A>C	NP_573573.2:p.Ser1085Arg
NR_110766.2:n.872A>C
NM_001379226.1:c.3880A>C	NP_001366155.1:p.Ser1294Arg
NM_012309.5:c.5017A>C MANE Select	NP_036441.2:p.Ser1673Arg