Canonical Allele Identifier: CA381675467

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319200T>A (hg19) ; chr11:g.70473095T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473095T>A , CM000673.2:g.70473095T>A	GRCh38
NC_000011.9:g.70319200T>A , CM000673.1:g.70319200T>A	GRCh37
NC_000011.8:g.69996848T>A	NCBI36
NG_042866.1:g.656702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3557A>T	ENSP00000345193.7:p.Asn1186Ile
ENST00000412252.6:c.1102A>T	ENSP00000414876.2:n.1102A>T
ENST00000601538.6:c.5324A>T MANE Select	ENSP00000469689.2:p.Asn1775Ile
ENST00000654939.1:c.2833A>T
ENST00000656230.1:c.4187A>T	ENSP00000499561.1:p.Asn1396Ile
ENST00000659264.1:c.3614A>T	ENSP00000499270.1:p.Asn1205Ile
ENST00000338508.8:c.3560A>T	ENSP00000345193.6:p.Asn1187Ile
ENST00000357171.7:c.*328A>T	ENSP00000349694.4:n.*328A>T
ENST00000409161.5:c.3536A>T	ENSP00000386491.1:p.Asn1179Ile
ENST00000412252.5:c.1100A>T
ENST00000423696.6:c.4187A>T	ENSP00000394536.2:p.Asn1396Ile
ENST00000424924.5:c.3161A>T	ENSP00000402944.1:p.Asn1054Ile
ENST00000449833.6:c.3560A>T	ENSP00000399423.3:p.Asn1187Ile
ENST00000601538.5:c.5324A>T	ENSP00000469689.2:p.Asn1775Ile
ENST00000606715.3:n.2076A>T
NM_012309.4:c.5324A>T	NP_036441.2:p.Asn1775Ile
NM_133266.4:c.3560A>T	NP_573573.2:p.Asn1187Ile
NR_110766.1:n.1178A>T
XM_005277930.2:c.5324A>T	XP_005277987.1:p.Asn1775Ile
XM_005277932.2:c.4187A>T	XP_005277989.1:p.Asn1396Ile
XM_006718478.2:c.5294A>T	XP_006718541.1:p.Asn1765Ile
XM_011544854.1:c.5336A>T	XP_011543156.1:p.Asn1779Ile
XM_011544855.1:c.5315A>T	XP_011543157.1:p.Asn1772Ile
XM_011544856.1:c.5309A>T	XP_011543158.1:p.Asn1770Ile
XM_011544857.1:c.5288A>T	XP_011543159.1:p.Asn1763Ile
XM_011544859.1:c.4199A>T	XP_011543161.1:p.Asn1400Ile
XM_005277932.3:c.4187A>T	XP_005277989.1:p.Asn1396Ile
XM_017017387.1:c.5324A>T	XP_016872876.1:p.Asn1775Ile
XM_017017388.1:c.5324A>T	XP_016872877.1:p.Asn1775Ile
XM_017017389.1:c.5297A>T	XP_016872878.1:p.Asn1766Ile
XM_017017390.1:c.3614A>T	XP_016872879.1:p.Asn1205Ile
NM_133266.5:c.3560A>T	NP_573573.2:p.Asn1187Ile
NR_110766.2:n.1179A>T
NM_001379226.1:c.4187A>T	NP_001366155.1:p.Asn1396Ile
NM_012309.5:c.5324A>T MANE Select	NP_036441.2:p.Asn1775Ile