Canonical Allele Identifier: CA214646

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486110G>A , CM000673.2:g.70486110G>A	GRCh38
NC_000011.9:g.70332215G>A , CM000673.1:g.70332215G>A	GRCh37
NC_000011.8:g.70009863G>A	NCBI36
NG_042866.1:g.643687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2416C>T	ENSP00000345193.7:p.Pro806Ser
ENST00000412252.6:c.757+4193C>T	ENSP00000414876.2:n.757+4193C>T
ENST00000601538.6:c.4183C>T MANE Select	ENSP00000469689.2:p.Pro1395Ser
ENST00000654939.1:c.1611C>T
ENST00000656230.1:c.3046C>T	ENSP00000499561.1:p.Pro1016Ser
ENST00000659264.1:c.2473C>T	ENSP00000499270.1:p.Pro825Ser
ENST00000338508.8:c.2419C>T	ENSP00000345193.6:p.Pro807Ser
ENST00000357171.7:c.718+4193C>T	ENSP00000349694.4:n.718+4193C>T
ENST00000409161.5:c.2395C>T	ENSP00000386491.1:p.Pro799Ser
ENST00000412252.5:c.755+4193C>T
ENST00000423696.6:c.3046C>T	ENSP00000394536.2:p.Pro1016Ser
ENST00000424924.5:c.2020C>T	ENSP00000402944.1:p.Pro674Ser
ENST00000449833.6:c.2419C>T	ENSP00000399423.3:p.Pro807Ser
ENST00000601538.5:c.4183C>T	ENSP00000469689.2:p.Pro1395Ser
NM_012309.4:c.4183C>T	NP_036441.2:p.Pro1395Ser
NM_133266.4:c.2419C>T	NP_573573.2:p.Pro807Ser
NR_110766.1:n.833+4193C>T
XM_005277930.2:c.4183C>T	XP_005277987.1:p.Pro1395Ser
XM_005277932.2:c.3046C>T	XP_005277989.1:p.Pro1016Ser
XM_006718478.2:c.4153C>T	XP_006718541.1:p.Pro1385Ser
XM_011544854.1:c.4195C>T	XP_011543156.1:p.Pro1399Ser
XM_011544855.1:c.4174C>T	XP_011543157.1:p.Pro1392Ser
XM_011544856.1:c.4168C>T	XP_011543158.1:p.Pro1390Ser
XM_011544857.1:c.4147C>T	XP_011543159.1:p.Pro1383Ser
XM_011544858.1:c.4195C>T	XP_011543160.1:p.Pro1399Ser
XM_011544859.1:c.3058C>T	XP_011543161.1:p.Pro1020Ser
XM_005277932.3:c.3046C>T	XP_005277989.1:p.Pro1016Ser
XM_017017387.1:c.4183C>T	XP_016872876.1:p.Pro1395Ser
XM_017017388.1:c.4183C>T	XP_016872877.1:p.Pro1395Ser
XM_017017389.1:c.4156C>T	XP_016872878.1:p.Pro1386Ser
XM_017017390.1:c.2473C>T	XP_016872879.1:p.Pro825Ser
NM_133266.5:c.2419C>T	NP_573573.2:p.Pro807Ser
NR_110766.2:n.834+4193C>T
NM_001379226.1:c.3046C>T	NP_001366155.1:p.Pro1016Ser
NM_012309.5:c.4183C>T MANE Select	NP_036441.2:p.Pro1395Ser