Canonical Allele Identifier: CA381676350

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319404G>C (hg19) ; chr11:g.70473299G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473299G>C , CM000673.2:g.70473299G>C	GRCh38
NC_000011.9:g.70319404G>C , CM000673.1:g.70319404G>C	GRCh37
NC_000011.8:g.69997052G>C	NCBI36
NG_042866.1:g.656498C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3353C>G	ENSP00000345193.7:p.Ala1118Gly
ENST00000412252.6:c.898C>G	ENSP00000414876.2:n.898C>G
ENST00000601538.6:c.5120C>G MANE Select	ENSP00000469689.2:p.Ala1707Gly
ENST00000654939.1:c.2629C>G
ENST00000656230.1:c.3983C>G	ENSP00000499561.1:p.Ala1328Gly
ENST00000659264.1:c.3410C>G	ENSP00000499270.1:p.Ala1137Gly
ENST00000338508.8:c.3356C>G	ENSP00000345193.6:p.Ala1119Gly
ENST00000357171.7:c.*124C>G	ENSP00000349694.4:n.*124C>G
ENST00000409161.5:c.3332C>G	ENSP00000386491.1:p.Ala1111Gly
ENST00000412252.5:c.896C>G
ENST00000423696.6:c.3983C>G	ENSP00000394536.2:p.Ala1328Gly
ENST00000424924.5:c.2957C>G	ENSP00000402944.1:p.Ala986Gly
ENST00000449833.6:c.3356C>G	ENSP00000399423.3:p.Ala1119Gly
ENST00000601538.5:c.5120C>G	ENSP00000469689.2:p.Ala1707Gly
ENST00000606715.3:n.1872C>G
NM_012309.4:c.5120C>G	NP_036441.2:p.Ala1707Gly
NM_133266.4:c.3356C>G	NP_573573.2:p.Ala1119Gly
NR_110766.1:n.974C>G
XM_005277930.2:c.5120C>G	XP_005277987.1:p.Ala1707Gly
XM_005277932.2:c.3983C>G	XP_005277989.1:p.Ala1328Gly
XM_006718478.2:c.5090C>G	XP_006718541.1:p.Ala1697Gly
XM_011544854.1:c.5132C>G	XP_011543156.1:p.Ala1711Gly
XM_011544855.1:c.5111C>G	XP_011543157.1:p.Ala1704Gly
XM_011544856.1:c.5105C>G	XP_011543158.1:p.Ala1702Gly
XM_011544857.1:c.5084C>G	XP_011543159.1:p.Ala1695Gly
XM_011544859.1:c.3995C>G	XP_011543161.1:p.Ala1332Gly
XM_005277932.3:c.3983C>G	XP_005277989.1:p.Ala1328Gly
XM_017017387.1:c.5120C>G	XP_016872876.1:p.Ala1707Gly
XM_017017388.1:c.5120C>G	XP_016872877.1:p.Ala1707Gly
XM_017017389.1:c.5093C>G	XP_016872878.1:p.Ala1698Gly
XM_017017390.1:c.3410C>G	XP_016872879.1:p.Ala1137Gly
NM_133266.5:c.3356C>G	NP_573573.2:p.Ala1119Gly
NR_110766.2:n.975C>G
NM_001379226.1:c.3983C>G	NP_001366155.1:p.Ala1328Gly
NM_012309.5:c.5120C>G MANE Select	NP_036441.2:p.Ala1707Gly