Canonical Allele Identifier: CA475471108

Gene: SHANK2

Linked Data

• COSMIC: COSM5373471 ; COSM5373472 ; COSM5373473
• MyVariant Identifiers: chr11:g.70319226G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473121G>A , CM000673.2:g.70473121G>A	GRCh38
NC_000011.9:g.70319226G>A , CM000673.1:g.70319226G>A	GRCh37
NC_000011.8:g.69996874G>A	NCBI36
NG_042866.1:g.656676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3531C>T	ENSP00000345193.7:p.Pro1177=
ENST00000412252.6:c.1076C>T	ENSP00000414876.2:n.1076C>T
ENST00000601538.6:c.5298C>T MANE Select	ENSP00000469689.2:p.Pro1766=
ENST00000654939.1:c.2807C>T
ENST00000656230.1:c.4161C>T	ENSP00000499561.1:p.Pro1387=
ENST00000659264.1:c.3588C>T	ENSP00000499270.1:p.Pro1196=
ENST00000338508.8:c.3534C>T	ENSP00000345193.6:p.Pro1178=
ENST00000357171.7:c.*302C>T	ENSP00000349694.4:n.*302C>T
ENST00000409161.5:c.3510C>T	ENSP00000386491.1:p.Pro1170=
ENST00000412252.5:c.1074C>T
ENST00000423696.6:c.4161C>T	ENSP00000394536.2:p.Pro1387=
ENST00000424924.5:c.3135C>T	ENSP00000402944.1:p.Pro1045=
ENST00000449833.6:c.3534C>T	ENSP00000399423.3:p.Pro1178=
ENST00000601538.5:c.5298C>T	ENSP00000469689.2:p.Pro1766=
ENST00000606715.3:n.2050C>T
NM_012309.4:c.5298C>T	NP_036441.2:p.Pro1766=
NM_133266.4:c.3534C>T	NP_573573.2:p.Pro1178=
NR_110766.1:n.1152C>T
XM_005277930.2:c.5298C>T	XP_005277987.1:p.Pro1766=
XM_005277932.2:c.4161C>T	XP_005277989.1:p.Pro1387=
XM_006718478.2:c.5268C>T	XP_006718541.1:p.Pro1756=
XM_011544854.1:c.5310C>T	XP_011543156.1:p.Pro1770=
XM_011544855.1:c.5289C>T	XP_011543157.1:p.Pro1763=
XM_011544856.1:c.5283C>T	XP_011543158.1:p.Pro1761=
XM_011544857.1:c.5262C>T	XP_011543159.1:p.Pro1754=
XM_011544859.1:c.4173C>T	XP_011543161.1:p.Pro1391=
XM_005277932.3:c.4161C>T	XP_005277989.1:p.Pro1387=
XM_017017387.1:c.5298C>T	XP_016872876.1:p.Pro1766=
XM_017017388.1:c.5298C>T	XP_016872877.1:p.Pro1766=
XM_017017389.1:c.5271C>T	XP_016872878.1:p.Pro1757=
XM_017017390.1:c.3588C>T	XP_016872879.1:p.Pro1196=
NM_133266.5:c.3534C>T	NP_573573.2:p.Pro1178=
NR_110766.2:n.1153C>T
NM_001379226.1:c.4161C>T	NP_001366155.1:p.Pro1387=
NM_012309.5:c.5298C>T MANE Select	NP_036441.2:p.Pro1766=