Canonical Allele Identifier: CA381675981

Gene: SHANK2

Linked Data

• COSMIC: COSM5625453 ; COSM5625454 ; COSM5625455
• MyVariant Identifiers: chr11:g.70319281G>T (hg19) ; chr11:g.70473176G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473176G>T , CM000673.2:g.70473176G>T	GRCh38
NC_000011.9:g.70319281G>T , CM000673.1:g.70319281G>T	GRCh37
NC_000011.8:g.69996929G>T	NCBI36
NG_042866.1:g.656621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3476C>A	ENSP00000345193.7:p.Pro1159His
ENST00000412252.6:c.1021C>A	ENSP00000414876.2:n.1021C>A
ENST00000601538.6:c.5243C>A MANE Select	ENSP00000469689.2:p.Pro1748His
ENST00000654939.1:c.2752C>A
ENST00000656230.1:c.4106C>A	ENSP00000499561.1:p.Pro1369His
ENST00000659264.1:c.3533C>A	ENSP00000499270.1:p.Pro1178His
ENST00000338508.8:c.3479C>A	ENSP00000345193.6:p.Pro1160His
ENST00000357171.7:c.*247C>A	ENSP00000349694.4:n.*247C>A
ENST00000409161.5:c.3455C>A	ENSP00000386491.1:p.Pro1152His
ENST00000412252.5:c.1019C>A
ENST00000423696.6:c.4106C>A	ENSP00000394536.2:p.Pro1369His
ENST00000424924.5:c.3080C>A	ENSP00000402944.1:p.Pro1027His
ENST00000449833.6:c.3479C>A	ENSP00000399423.3:p.Pro1160His
ENST00000601538.5:c.5243C>A	ENSP00000469689.2:p.Pro1748His
ENST00000606715.3:n.1995C>A
NM_012309.4:c.5243C>A	NP_036441.2:p.Pro1748His
NM_133266.4:c.3479C>A	NP_573573.2:p.Pro1160His
NR_110766.1:n.1097C>A
XM_005277930.2:c.5243C>A	XP_005277987.1:p.Pro1748His
XM_005277932.2:c.4106C>A	XP_005277989.1:p.Pro1369His
XM_006718478.2:c.5213C>A	XP_006718541.1:p.Pro1738His
XM_011544854.1:c.5255C>A	XP_011543156.1:p.Pro1752His
XM_011544855.1:c.5234C>A	XP_011543157.1:p.Pro1745His
XM_011544856.1:c.5228C>A	XP_011543158.1:p.Pro1743His
XM_011544857.1:c.5207C>A	XP_011543159.1:p.Pro1736His
XM_011544859.1:c.4118C>A	XP_011543161.1:p.Pro1373His
XM_005277932.3:c.4106C>A	XP_005277989.1:p.Pro1369His
XM_017017387.1:c.5243C>A	XP_016872876.1:p.Pro1748His
XM_017017388.1:c.5243C>A	XP_016872877.1:p.Pro1748His
XM_017017389.1:c.5216C>A	XP_016872878.1:p.Pro1739His
XM_017017390.1:c.3533C>A	XP_016872879.1:p.Pro1178His
NM_133266.5:c.3479C>A	NP_573573.2:p.Pro1160His
NR_110766.2:n.1098C>A
NM_001379226.1:c.4106C>A	NP_001366155.1:p.Pro1369His
NM_012309.5:c.5243C>A MANE Select	NP_036441.2:p.Pro1748His