Canonical Allele Identifier: CA381676082

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319301A>C (hg19) ; chr11:g.70473196A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473196A>C , CM000673.2:g.70473196A>C	GRCh38
NC_000011.9:g.70319301A>C , CM000673.1:g.70319301A>C	GRCh37
NC_000011.8:g.69996949A>C	NCBI36
NG_042866.1:g.656601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3456T>G	ENSP00000345193.7:p.Phe1152Leu
ENST00000412252.6:c.1001T>G	ENSP00000414876.2:n.1001T>G
ENST00000601538.6:c.5223T>G MANE Select	ENSP00000469689.2:p.Phe1741Leu
ENST00000654939.1:c.2732T>G
ENST00000656230.1:c.4086T>G	ENSP00000499561.1:p.Phe1362Leu
ENST00000659264.1:c.3513T>G	ENSP00000499270.1:p.Phe1171Leu
ENST00000338508.8:c.3459T>G	ENSP00000345193.6:p.Phe1153Leu
ENST00000357171.7:c.*227T>G	ENSP00000349694.4:n.*227T>G
ENST00000409161.5:c.3435T>G	ENSP00000386491.1:p.Phe1145Leu
ENST00000412252.5:c.999T>G
ENST00000423696.6:c.4086T>G	ENSP00000394536.2:p.Phe1362Leu
ENST00000424924.5:c.3060T>G	ENSP00000402944.1:p.Phe1020Leu
ENST00000449833.6:c.3459T>G	ENSP00000399423.3:p.Phe1153Leu
ENST00000601538.5:c.5223T>G	ENSP00000469689.2:p.Phe1741Leu
ENST00000606715.3:n.1975T>G
NM_012309.4:c.5223T>G	NP_036441.2:p.Phe1741Leu
NM_133266.4:c.3459T>G	NP_573573.2:p.Phe1153Leu
NR_110766.1:n.1077T>G
XM_005277930.2:c.5223T>G	XP_005277987.1:p.Phe1741Leu
XM_005277932.2:c.4086T>G	XP_005277989.1:p.Phe1362Leu
XM_006718478.2:c.5193T>G	XP_006718541.1:p.Phe1731Leu
XM_011544854.1:c.5235T>G	XP_011543156.1:p.Phe1745Leu
XM_011544855.1:c.5214T>G	XP_011543157.1:p.Phe1738Leu
XM_011544856.1:c.5208T>G	XP_011543158.1:p.Phe1736Leu
XM_011544857.1:c.5187T>G	XP_011543159.1:p.Phe1729Leu
XM_011544859.1:c.4098T>G	XP_011543161.1:p.Phe1366Leu
XM_005277932.3:c.4086T>G	XP_005277989.1:p.Phe1362Leu
XM_017017387.1:c.5223T>G	XP_016872876.1:p.Phe1741Leu
XM_017017388.1:c.5223T>G	XP_016872877.1:p.Phe1741Leu
XM_017017389.1:c.5196T>G	XP_016872878.1:p.Phe1732Leu
XM_017017390.1:c.3513T>G	XP_016872879.1:p.Phe1171Leu
NM_133266.5:c.3459T>G	NP_573573.2:p.Phe1153Leu
NR_110766.2:n.1078T>G
NM_001379226.1:c.4086T>G	NP_001366155.1:p.Phe1362Leu
NM_012309.5:c.5223T>G MANE Select	NP_036441.2:p.Phe1741Leu