Canonical Allele Identifier: CA381683723

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332214G>C (hg19) ; chr11:g.70486109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486109G>C , CM000673.2:g.70486109G>C	GRCh38
NC_000011.9:g.70332214G>C , CM000673.1:g.70332214G>C	GRCh37
NC_000011.8:g.70009862G>C	NCBI36
NG_042866.1:g.643688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2417C>G	ENSP00000345193.7:p.Pro806Arg
ENST00000412252.6:c.757+4194C>G	ENSP00000414876.2:n.757+4194C>G
ENST00000601538.6:c.4184C>G MANE Select	ENSP00000469689.2:p.Pro1395Arg
ENST00000654939.1:c.1612C>G
ENST00000656230.1:c.3047C>G	ENSP00000499561.1:p.Pro1016Arg
ENST00000659264.1:c.2474C>G	ENSP00000499270.1:p.Pro825Arg
ENST00000338508.8:c.2420C>G	ENSP00000345193.6:p.Pro807Arg
ENST00000357171.7:c.718+4194C>G	ENSP00000349694.4:n.718+4194C>G
ENST00000409161.5:c.2396C>G	ENSP00000386491.1:p.Pro799Arg
ENST00000412252.5:c.755+4194C>G
ENST00000423696.6:c.3047C>G	ENSP00000394536.2:p.Pro1016Arg
ENST00000424924.5:c.2021C>G	ENSP00000402944.1:p.Pro674Arg
ENST00000449833.6:c.2420C>G	ENSP00000399423.3:p.Pro807Arg
ENST00000601538.5:c.4184C>G	ENSP00000469689.2:p.Pro1395Arg
NM_012309.4:c.4184C>G	NP_036441.2:p.Pro1395Arg
NM_133266.4:c.2420C>G	NP_573573.2:p.Pro807Arg
NR_110766.1:n.833+4194C>G
XM_005277930.2:c.4184C>G	XP_005277987.1:p.Pro1395Arg
XM_005277932.2:c.3047C>G	XP_005277989.1:p.Pro1016Arg
XM_006718478.2:c.4154C>G	XP_006718541.1:p.Pro1385Arg
XM_011544854.1:c.4196C>G	XP_011543156.1:p.Pro1399Arg
XM_011544855.1:c.4175C>G	XP_011543157.1:p.Pro1392Arg
XM_011544856.1:c.4169C>G	XP_011543158.1:p.Pro1390Arg
XM_011544857.1:c.4148C>G	XP_011543159.1:p.Pro1383Arg
XM_011544858.1:c.4196C>G	XP_011543160.1:p.Pro1399Arg
XM_011544859.1:c.3059C>G	XP_011543161.1:p.Pro1020Arg
XM_005277932.3:c.3047C>G	XP_005277989.1:p.Pro1016Arg
XM_017017387.1:c.4184C>G	XP_016872876.1:p.Pro1395Arg
XM_017017388.1:c.4184C>G	XP_016872877.1:p.Pro1395Arg
XM_017017389.1:c.4157C>G	XP_016872878.1:p.Pro1386Arg
XM_017017390.1:c.2474C>G	XP_016872879.1:p.Pro825Arg
NM_133266.5:c.2420C>G	NP_573573.2:p.Pro807Arg
NR_110766.2:n.834+4194C>G
NM_001379226.1:c.3047C>G	NP_001366155.1:p.Pro1016Arg
NM_012309.5:c.4184C>G MANE Select	NP_036441.2:p.Pro1395Arg