Canonical Allele Identifier: CA381675443

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319197T>C (hg19) ; chr11:g.70473092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473092T>C , CM000673.2:g.70473092T>C	GRCh38
NC_000011.9:g.70319197T>C , CM000673.1:g.70319197T>C	GRCh37
NC_000011.8:g.69996845T>C	NCBI36
NG_042866.1:g.656705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3560A>G	ENSP00000345193.7:p.Lys1187Arg
ENST00000412252.6:c.1105A>G	ENSP00000414876.2:n.1105A>G
ENST00000601538.6:c.5327A>G MANE Select	ENSP00000469689.2:p.Lys1776Arg
ENST00000654939.1:c.2836A>G
ENST00000656230.1:c.4190A>G	ENSP00000499561.1:p.Lys1397Arg
ENST00000659264.1:c.3617A>G	ENSP00000499270.1:p.Lys1206Arg
ENST00000338508.8:c.3563A>G	ENSP00000345193.6:p.Lys1188Arg
ENST00000357171.7:c.*331A>G	ENSP00000349694.4:n.*331A>G
ENST00000409161.5:c.3539A>G	ENSP00000386491.1:p.Lys1180Arg
ENST00000412252.5:c.1103A>G
ENST00000423696.6:c.4190A>G	ENSP00000394536.2:p.Lys1397Arg
ENST00000424924.5:c.3164A>G	ENSP00000402944.1:p.Lys1055Arg
ENST00000449833.6:c.3563A>G	ENSP00000399423.3:p.Lys1188Arg
ENST00000601538.5:c.5327A>G	ENSP00000469689.2:p.Lys1776Arg
ENST00000606715.3:n.2079A>G
NM_012309.4:c.5327A>G	NP_036441.2:p.Lys1776Arg
NM_133266.4:c.3563A>G	NP_573573.2:p.Lys1188Arg
NR_110766.1:n.1181A>G
XM_005277930.2:c.5327A>G	XP_005277987.1:p.Lys1776Arg
XM_005277932.2:c.4190A>G	XP_005277989.1:p.Lys1397Arg
XM_006718478.2:c.5297A>G	XP_006718541.1:p.Lys1766Arg
XM_011544854.1:c.5339A>G	XP_011543156.1:p.Lys1780Arg
XM_011544855.1:c.5318A>G	XP_011543157.1:p.Lys1773Arg
XM_011544856.1:c.5312A>G	XP_011543158.1:p.Lys1771Arg
XM_011544857.1:c.5291A>G	XP_011543159.1:p.Lys1764Arg
XM_011544859.1:c.4202A>G	XP_011543161.1:p.Lys1401Arg
XM_005277932.3:c.4190A>G	XP_005277989.1:p.Lys1397Arg
XM_017017387.1:c.5327A>G	XP_016872876.1:p.Lys1776Arg
XM_017017388.1:c.5327A>G	XP_016872877.1:p.Lys1776Arg
XM_017017389.1:c.5300A>G	XP_016872878.1:p.Lys1767Arg
XM_017017390.1:c.3617A>G	XP_016872879.1:p.Lys1206Arg
NM_133266.5:c.3563A>G	NP_573573.2:p.Lys1188Arg
NR_110766.2:n.1182A>G
NM_001379226.1:c.4190A>G	NP_001366155.1:p.Lys1397Arg
NM_012309.5:c.5327A>G MANE Select	NP_036441.2:p.Lys1776Arg