Canonical Allele Identifier: CA475470718

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319391C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473286C>G , CM000673.2:g.70473286C>G	GRCh38
NC_000011.9:g.70319391C>G , CM000673.1:g.70319391C>G	GRCh37
NC_000011.8:g.69997039C>G	NCBI36
NG_042866.1:g.656511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3366G>C	ENSP00000345193.7:p.Val1122=
ENST00000412252.6:c.911G>C	ENSP00000414876.2:n.911G>C
ENST00000601538.6:c.5133G>C MANE Select	ENSP00000469689.2:p.Val1711=
ENST00000654939.1:c.2642G>C
ENST00000656230.1:c.3996G>C	ENSP00000499561.1:p.Val1332=
ENST00000659264.1:c.3423G>C	ENSP00000499270.1:p.Val1141=
ENST00000338508.8:c.3369G>C	ENSP00000345193.6:p.Val1123=
ENST00000357171.7:c.*137G>C	ENSP00000349694.4:n.*137G>C
ENST00000409161.5:c.3345G>C	ENSP00000386491.1:p.Val1115=
ENST00000412252.5:c.909G>C
ENST00000423696.6:c.3996G>C	ENSP00000394536.2:p.Val1332=
ENST00000424924.5:c.2970G>C	ENSP00000402944.1:p.Val990=
ENST00000449833.6:c.3369G>C	ENSP00000399423.3:p.Val1123=
ENST00000601538.5:c.5133G>C	ENSP00000469689.2:p.Val1711=
ENST00000606715.3:n.1885G>C
NM_012309.4:c.5133G>C	NP_036441.2:p.Val1711=
NM_133266.4:c.3369G>C	NP_573573.2:p.Val1123=
NR_110766.1:n.987G>C
XM_005277930.2:c.5133G>C	XP_005277987.1:p.Val1711=
XM_005277932.2:c.3996G>C	XP_005277989.1:p.Val1332=
XM_006718478.2:c.5103G>C	XP_006718541.1:p.Val1701=
XM_011544854.1:c.5145G>C	XP_011543156.1:p.Val1715=
XM_011544855.1:c.5124G>C	XP_011543157.1:p.Val1708=
XM_011544856.1:c.5118G>C	XP_011543158.1:p.Val1706=
XM_011544857.1:c.5097G>C	XP_011543159.1:p.Val1699=
XM_011544859.1:c.4008G>C	XP_011543161.1:p.Val1336=
XM_005277932.3:c.3996G>C	XP_005277989.1:p.Val1332=
XM_017017387.1:c.5133G>C	XP_016872876.1:p.Val1711=
XM_017017388.1:c.5133G>C	XP_016872877.1:p.Val1711=
XM_017017389.1:c.5106G>C	XP_016872878.1:p.Val1702=
XM_017017390.1:c.3423G>C	XP_016872879.1:p.Val1141=
NM_133266.5:c.3369G>C	NP_573573.2:p.Val1123=
NR_110766.2:n.988G>C
NM_001379226.1:c.3996G>C	NP_001366155.1:p.Val1332=
NM_012309.5:c.5133G>C MANE Select	NP_036441.2:p.Val1711=