Canonical Allele Identifier: CA223591351

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70471272A>C , CM000673.2:g.70471272A>C	GRCh38
NC_000011.9:g.70317377A>C , CM000673.1:g.70317377A>C	GRCh37
NC_000011.8:g.69995025A>C	NCBI36
NG_042866.1:g.658525T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.*1597T>G	ENSP00000345193.7:n.*1597T>G
ENST00000601538.6:c.*1597T>G MANE Select	ENSP00000469689.2:n.*1597T>G
ENST00000654939.1:c.4656T>G
ENST00000656230.1:c.*1597T>G	ENSP00000499561.1:n.*1597T>G
ENST00000659264.1:c.*1597T>G	ENSP00000499270.1:n.*1597T>G
ENST00000338508.8:c.*1597T>G	ENSP00000345193.6:n.*1597T>G
ENST00000409161.5:c.*1597T>G	ENSP00000386491.1:n.*1597T>G
ENST00000423696.6:c.6010T>G	ENSP00000394536.2:n.6010T>G
ENST00000424924.5:c.4984T>G	ENSP00000402944.1:n.4984T>G
ENST00000449833.6:c.*1597T>G	ENSP00000399423.3:n.*1597T>G
ENST00000601538.5:c.*1597T>G	ENSP00000469689.2:n.*1597T>G
ENST00000606715.3:n.3899T>G
NM_012309.4:c.*1597T>G	NP_036441.2:n.*1597T>G
NM_133266.4:c.*1597T>G	NP_573573.2:n.*1597T>G
NR_110766.1:n.3001T>G
XM_005277930.2:c.*1597T>G	XP_005277987.1:n.*1597T>G
XM_005277932.2:c.*1597T>G	XP_005277989.1:n.*1597T>G
XM_006718478.2:c.*1597T>G	XP_006718541.1:n.*1597T>G
XM_011544854.1:c.*1597T>G	XP_011543156.1:n.*1597T>G
XM_011544855.1:c.*1597T>G	XP_011543157.1:n.*1597T>G
XM_011544856.1:c.*1597T>G	XP_011543158.1:n.*1597T>G
XM_011544857.1:c.*1597T>G	XP_011543159.1:n.*1597T>G
XM_011544859.1:c.*1597T>G	XP_011543161.1:n.*1597T>G
XM_005277932.3:c.*1597T>G	XP_005277989.1:n.*1597T>G
XM_017017387.1:c.*1597T>G	XP_016872876.1:n.*1597T>G
XM_017017388.1:c.*1597T>G	XP_016872877.1:n.*1597T>G
XM_017017389.1:c.*1597T>G	XP_016872878.1:n.*1597T>G
XM_017017390.1:c.*1597T>G	XP_016872879.1:n.*1597T>G
NM_133266.5:c.*1597T>G	NP_573573.2:n.*1597T>G
NR_110766.2:n.3002T>G
NM_001379226.1:c.*1597T>G	NP_001366155.1:n.*1597T>G
NM_012309.5:c.*1597T>G MANE Select	NP_036441.2:n.*1597T>G