Canonical Allele Identifier: CA381675631

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319219G>C (hg19) ; chr11:g.70473114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473114G>C , CM000673.2:g.70473114G>C	GRCh38
NC_000011.9:g.70319219G>C , CM000673.1:g.70319219G>C	GRCh37
NC_000011.8:g.69996867G>C	NCBI36
NG_042866.1:g.656683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3538C>G	ENSP00000345193.7:p.Leu1180Val
ENST00000412252.6:c.1083C>G	ENSP00000414876.2:n.1083C>G
ENST00000601538.6:c.5305C>G MANE Select	ENSP00000469689.2:p.Leu1769Val
ENST00000654939.1:c.2814C>G
ENST00000656230.1:c.4168C>G	ENSP00000499561.1:p.Leu1390Val
ENST00000659264.1:c.3595C>G	ENSP00000499270.1:p.Leu1199Val
ENST00000338508.8:c.3541C>G	ENSP00000345193.6:p.Leu1181Val
ENST00000357171.7:c.*309C>G	ENSP00000349694.4:n.*309C>G
ENST00000409161.5:c.3517C>G	ENSP00000386491.1:p.Leu1173Val
ENST00000412252.5:c.1081C>G
ENST00000423696.6:c.4168C>G	ENSP00000394536.2:p.Leu1390Val
ENST00000424924.5:c.3142C>G	ENSP00000402944.1:p.Leu1048Val
ENST00000449833.6:c.3541C>G	ENSP00000399423.3:p.Leu1181Val
ENST00000601538.5:c.5305C>G	ENSP00000469689.2:p.Leu1769Val
ENST00000606715.3:n.2057C>G
NM_012309.4:c.5305C>G	NP_036441.2:p.Leu1769Val
NM_133266.4:c.3541C>G	NP_573573.2:p.Leu1181Val
NR_110766.1:n.1159C>G
XM_005277930.2:c.5305C>G	XP_005277987.1:p.Leu1769Val
XM_005277932.2:c.4168C>G	XP_005277989.1:p.Leu1390Val
XM_006718478.2:c.5275C>G	XP_006718541.1:p.Leu1759Val
XM_011544854.1:c.5317C>G	XP_011543156.1:p.Leu1773Val
XM_011544855.1:c.5296C>G	XP_011543157.1:p.Leu1766Val
XM_011544856.1:c.5290C>G	XP_011543158.1:p.Leu1764Val
XM_011544857.1:c.5269C>G	XP_011543159.1:p.Leu1757Val
XM_011544859.1:c.4180C>G	XP_011543161.1:p.Leu1394Val
XM_005277932.3:c.4168C>G	XP_005277989.1:p.Leu1390Val
XM_017017387.1:c.5305C>G	XP_016872876.1:p.Leu1769Val
XM_017017388.1:c.5305C>G	XP_016872877.1:p.Leu1769Val
XM_017017389.1:c.5278C>G	XP_016872878.1:p.Leu1760Val
XM_017017390.1:c.3595C>G	XP_016872879.1:p.Leu1199Val
NM_133266.5:c.3541C>G	NP_573573.2:p.Leu1181Val
NR_110766.2:n.1160C>G
NM_001379226.1:c.4168C>G	NP_001366155.1:p.Leu1390Val
NM_012309.5:c.5305C>G MANE Select	NP_036441.2:p.Leu1769Val