Canonical Allele Identifier: CA381675503

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319206A>T (hg19) ; chr11:g.70473101A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473101A>T , CM000673.2:g.70473101A>T	GRCh38
NC_000011.9:g.70319206A>T , CM000673.1:g.70319206A>T	GRCh37
NC_000011.8:g.69996854A>T	NCBI36
NG_042866.1:g.656696T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3551T>A	ENSP00000345193.7:p.Ile1184Asn
ENST00000412252.6:c.1096T>A	ENSP00000414876.2:n.1096T>A
ENST00000601538.6:c.5318T>A MANE Select	ENSP00000469689.2:p.Ile1773Asn
ENST00000654939.1:c.2827T>A
ENST00000656230.1:c.4181T>A	ENSP00000499561.1:p.Ile1394Asn
ENST00000659264.1:c.3608T>A	ENSP00000499270.1:p.Ile1203Asn
ENST00000338508.8:c.3554T>A	ENSP00000345193.6:p.Ile1185Asn
ENST00000357171.7:c.*322T>A	ENSP00000349694.4:n.*322T>A
ENST00000409161.5:c.3530T>A	ENSP00000386491.1:p.Ile1177Asn
ENST00000412252.5:c.1094T>A
ENST00000423696.6:c.4181T>A	ENSP00000394536.2:p.Ile1394Asn
ENST00000424924.5:c.3155T>A	ENSP00000402944.1:p.Ile1052Asn
ENST00000449833.6:c.3554T>A	ENSP00000399423.3:p.Ile1185Asn
ENST00000601538.5:c.5318T>A	ENSP00000469689.2:p.Ile1773Asn
ENST00000606715.3:n.2070T>A
NM_012309.4:c.5318T>A	NP_036441.2:p.Ile1773Asn
NM_133266.4:c.3554T>A	NP_573573.2:p.Ile1185Asn
NR_110766.1:n.1172T>A
XM_005277930.2:c.5318T>A	XP_005277987.1:p.Ile1773Asn
XM_005277932.2:c.4181T>A	XP_005277989.1:p.Ile1394Asn
XM_006718478.2:c.5288T>A	XP_006718541.1:p.Ile1763Asn
XM_011544854.1:c.5330T>A	XP_011543156.1:p.Ile1777Asn
XM_011544855.1:c.5309T>A	XP_011543157.1:p.Ile1770Asn
XM_011544856.1:c.5303T>A	XP_011543158.1:p.Ile1768Asn
XM_011544857.1:c.5282T>A	XP_011543159.1:p.Ile1761Asn
XM_011544859.1:c.4193T>A	XP_011543161.1:p.Ile1398Asn
XM_005277932.3:c.4181T>A	XP_005277989.1:p.Ile1394Asn
XM_017017387.1:c.5318T>A	XP_016872876.1:p.Ile1773Asn
XM_017017388.1:c.5318T>A	XP_016872877.1:p.Ile1773Asn
XM_017017389.1:c.5291T>A	XP_016872878.1:p.Ile1764Asn
XM_017017390.1:c.3608T>A	XP_016872879.1:p.Ile1203Asn
NM_133266.5:c.3554T>A	NP_573573.2:p.Ile1185Asn
NR_110766.2:n.1173T>A
NM_001379226.1:c.4181T>A	NP_001366155.1:p.Ile1394Asn
NM_012309.5:c.5318T>A MANE Select	NP_036441.2:p.Ile1773Asn