Canonical Allele Identifier: CA381676273

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319367T>A (hg19) ; chr11:g.70473262T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473262T>A , CM000673.2:g.70473262T>A	GRCh38
NC_000011.9:g.70319367T>A , CM000673.1:g.70319367T>A	GRCh37
NC_000011.8:g.69997015T>A	NCBI36
NG_042866.1:g.656535A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3390A>T	ENSP00000345193.7:p.Lys1130Asn
ENST00000412252.6:c.935A>T	ENSP00000414876.2:n.935A>T
ENST00000601538.6:c.5157A>T MANE Select	ENSP00000469689.2:p.Lys1719Asn
ENST00000654939.1:c.2666A>T
ENST00000656230.1:c.4020A>T	ENSP00000499561.1:p.Lys1340Asn
ENST00000659264.1:c.3447A>T	ENSP00000499270.1:p.Lys1149Asn
ENST00000338508.8:c.3393A>T	ENSP00000345193.6:p.Lys1131Asn
ENST00000357171.7:c.*161A>T	ENSP00000349694.4:n.*161A>T
ENST00000409161.5:c.3369A>T	ENSP00000386491.1:p.Lys1123Asn
ENST00000412252.5:c.933A>T
ENST00000423696.6:c.4020A>T	ENSP00000394536.2:p.Lys1340Asn
ENST00000424924.5:c.2994A>T	ENSP00000402944.1:p.Lys998Asn
ENST00000449833.6:c.3393A>T	ENSP00000399423.3:p.Lys1131Asn
ENST00000601538.5:c.5157A>T	ENSP00000469689.2:p.Lys1719Asn
ENST00000606715.3:n.1909A>T
NM_012309.4:c.5157A>T	NP_036441.2:p.Lys1719Asn
NM_133266.4:c.3393A>T	NP_573573.2:p.Lys1131Asn
NR_110766.1:n.1011A>T
XM_005277930.2:c.5157A>T	XP_005277987.1:p.Lys1719Asn
XM_005277932.2:c.4020A>T	XP_005277989.1:p.Lys1340Asn
XM_006718478.2:c.5127A>T	XP_006718541.1:p.Lys1709Asn
XM_011544854.1:c.5169A>T	XP_011543156.1:p.Lys1723Asn
XM_011544855.1:c.5148A>T	XP_011543157.1:p.Lys1716Asn
XM_011544856.1:c.5142A>T	XP_011543158.1:p.Lys1714Asn
XM_011544857.1:c.5121A>T	XP_011543159.1:p.Lys1707Asn
XM_011544859.1:c.4032A>T	XP_011543161.1:p.Lys1344Asn
XM_005277932.3:c.4020A>T	XP_005277989.1:p.Lys1340Asn
XM_017017387.1:c.5157A>T	XP_016872876.1:p.Lys1719Asn
XM_017017388.1:c.5157A>T	XP_016872877.1:p.Lys1719Asn
XM_017017389.1:c.5130A>T	XP_016872878.1:p.Lys1710Asn
XM_017017390.1:c.3447A>T	XP_016872879.1:p.Lys1149Asn
NM_133266.5:c.3393A>T	NP_573573.2:p.Lys1131Asn
NR_110766.2:n.1012A>T
NM_001379226.1:c.4020A>T	NP_001366155.1:p.Lys1340Asn
NM_012309.5:c.5157A>T MANE Select	NP_036441.2:p.Lys1719Asn