Canonical Allele Identifier: CA381675513

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319207T>G (hg19) ; chr11:g.70473102T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473102T>G , CM000673.2:g.70473102T>G	GRCh38
NC_000011.9:g.70319207T>G , CM000673.1:g.70319207T>G	GRCh37
NC_000011.8:g.69996855T>G	NCBI36
NG_042866.1:g.656695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3550A>C	ENSP00000345193.7:p.Ile1184Leu
ENST00000412252.6:c.1095A>C	ENSP00000414876.2:n.1095A>C
ENST00000601538.6:c.5317A>C MANE Select	ENSP00000469689.2:p.Ile1773Leu
ENST00000654939.1:c.2826A>C
ENST00000656230.1:c.4180A>C	ENSP00000499561.1:p.Ile1394Leu
ENST00000659264.1:c.3607A>C	ENSP00000499270.1:p.Ile1203Leu
ENST00000338508.8:c.3553A>C	ENSP00000345193.6:p.Ile1185Leu
ENST00000357171.7:c.*321A>C	ENSP00000349694.4:n.*321A>C
ENST00000409161.5:c.3529A>C	ENSP00000386491.1:p.Ile1177Leu
ENST00000412252.5:c.1093A>C
ENST00000423696.6:c.4180A>C	ENSP00000394536.2:p.Ile1394Leu
ENST00000424924.5:c.3154A>C	ENSP00000402944.1:p.Ile1052Leu
ENST00000449833.6:c.3553A>C	ENSP00000399423.3:p.Ile1185Leu
ENST00000601538.5:c.5317A>C	ENSP00000469689.2:p.Ile1773Leu
ENST00000606715.3:n.2069A>C
NM_012309.4:c.5317A>C	NP_036441.2:p.Ile1773Leu
NM_133266.4:c.3553A>C	NP_573573.2:p.Ile1185Leu
NR_110766.1:n.1171A>C
XM_005277930.2:c.5317A>C	XP_005277987.1:p.Ile1773Leu
XM_005277932.2:c.4180A>C	XP_005277989.1:p.Ile1394Leu
XM_006718478.2:c.5287A>C	XP_006718541.1:p.Ile1763Leu
XM_011544854.1:c.5329A>C	XP_011543156.1:p.Ile1777Leu
XM_011544855.1:c.5308A>C	XP_011543157.1:p.Ile1770Leu
XM_011544856.1:c.5302A>C	XP_011543158.1:p.Ile1768Leu
XM_011544857.1:c.5281A>C	XP_011543159.1:p.Ile1761Leu
XM_011544859.1:c.4192A>C	XP_011543161.1:p.Ile1398Leu
XM_005277932.3:c.4180A>C	XP_005277989.1:p.Ile1394Leu
XM_017017387.1:c.5317A>C	XP_016872876.1:p.Ile1773Leu
XM_017017388.1:c.5317A>C	XP_016872877.1:p.Ile1773Leu
XM_017017389.1:c.5290A>C	XP_016872878.1:p.Ile1764Leu
XM_017017390.1:c.3607A>C	XP_016872879.1:p.Ile1203Leu
NM_133266.5:c.3553A>C	NP_573573.2:p.Ile1185Leu
NR_110766.2:n.1172A>C
NM_001379226.1:c.4180A>C	NP_001366155.1:p.Ile1394Leu
NM_012309.5:c.5317A>C MANE Select	NP_036441.2:p.Ile1773Leu