Canonical Allele Identifier: CA381675468

Gene: SHANK2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3557A>G	ENSP00000345193.7:p.Asn1186Ser
ENST00000412252.6:c.1102A>G	ENSP00000414876.2:n.1102A>G
ENST00000601538.6:c.5324A>G MANE Select	ENSP00000469689.2:p.Asn1775Ser
ENST00000654939.1:c.2833A>G
ENST00000656230.1:c.4187A>G	ENSP00000499561.1:p.Asn1396Ser
ENST00000659264.1:c.3614A>G	ENSP00000499270.1:p.Asn1205Ser
ENST00000338508.8:c.3560A>G	ENSP00000345193.6:p.Asn1187Ser
ENST00000357171.7:c.*328A>G	ENSP00000349694.4:n.*328A>G
ENST00000409161.5:c.3536A>G	ENSP00000386491.1:p.Asn1179Ser
ENST00000412252.5:c.1100A>G
ENST00000423696.6:c.4187A>G	ENSP00000394536.2:p.Asn1396Ser
ENST00000424924.5:c.3161A>G	ENSP00000402944.1:p.Asn1054Ser
ENST00000449833.6:c.3560A>G	ENSP00000399423.3:p.Asn1187Ser
ENST00000601538.5:c.5324A>G	ENSP00000469689.2:p.Asn1775Ser
ENST00000606715.3:n.2076A>G
NM_012309.4:c.5324A>G	NP_036441.2:p.Asn1775Ser
NM_133266.4:c.3560A>G	NP_573573.2:p.Asn1187Ser
NR_110766.1:n.1178A>G
XM_005277930.2:c.5324A>G	XP_005277987.1:p.Asn1775Ser
XM_005277932.2:c.4187A>G	XP_005277989.1:p.Asn1396Ser
XM_006718478.2:c.5294A>G	XP_006718541.1:p.Asn1765Ser
XM_011544854.1:c.5336A>G	XP_011543156.1:p.Asn1779Ser
XM_011544855.1:c.5315A>G	XP_011543157.1:p.Asn1772Ser
XM_011544856.1:c.5309A>G	XP_011543158.1:p.Asn1770Ser
XM_011544857.1:c.5288A>G	XP_011543159.1:p.Asn1763Ser
XM_011544859.1:c.4199A>G	XP_011543161.1:p.Asn1400Ser
XM_005277932.3:c.4187A>G	XP_005277989.1:p.Asn1396Ser
XM_017017387.1:c.5324A>G	XP_016872876.1:p.Asn1775Ser
XM_017017388.1:c.5324A>G	XP_016872877.1:p.Asn1775Ser
XM_017017389.1:c.5297A>G	XP_016872878.1:p.Asn1766Ser
XM_017017390.1:c.3614A>G	XP_016872879.1:p.Asn1205Ser
NM_133266.5:c.3560A>G	NP_573573.2:p.Asn1187Ser
NR_110766.2:n.1179A>G
NM_001379226.1:c.4187A>G	NP_001366155.1:p.Asn1396Ser
NM_012309.5:c.5324A>G MANE Select	NP_036441.2:p.Asn1775Ser