Canonical Allele Identifier: CA381682162

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485863A>C , CM000673.2:g.70485863A>C	GRCh38
NC_000011.9:g.70331968A>C , CM000673.1:g.70331968A>C	GRCh37
NC_000011.8:g.70009616A>C	NCBI36
NG_042866.1:g.643934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2663T>G	ENSP00000345193.7:p.Leu888Arg
ENST00000412252.6:c.757+4440T>G	ENSP00000414876.2:n.757+4440T>G
ENST00000601538.6:c.4430T>G MANE Select	ENSP00000469689.2:p.Leu1477Arg
ENST00000654939.1:c.1858T>G
ENST00000656230.1:c.3293T>G	ENSP00000499561.1:p.Leu1098Arg
ENST00000659264.1:c.2720T>G	ENSP00000499270.1:p.Leu907Arg
ENST00000338508.8:c.2666T>G	ENSP00000345193.6:p.Leu889Arg
ENST00000357171.7:c.718+4440T>G	ENSP00000349694.4:n.718+4440T>G
ENST00000409161.5:c.2642T>G	ENSP00000386491.1:p.Leu881Arg
ENST00000412252.5:c.755+4440T>G
ENST00000423696.6:c.3293T>G	ENSP00000394536.2:p.Leu1098Arg
ENST00000424924.5:c.2267T>G	ENSP00000402944.1:p.Leu756Arg
ENST00000449833.6:c.2666T>G	ENSP00000399423.3:p.Leu889Arg
ENST00000601538.5:c.4430T>G	ENSP00000469689.2:p.Leu1477Arg
NM_012309.4:c.4430T>G	NP_036441.2:p.Leu1477Arg
NM_133266.4:c.2666T>G	NP_573573.2:p.Leu889Arg
NR_110766.1:n.833+4440T>G
XM_005277930.2:c.4430T>G	XP_005277987.1:p.Leu1477Arg
XM_005277932.2:c.3293T>G	XP_005277989.1:p.Leu1098Arg
XM_006718478.2:c.4400T>G	XP_006718541.1:p.Leu1467Arg
XM_011544854.1:c.4442T>G	XP_011543156.1:p.Leu1481Arg
XM_011544855.1:c.4421T>G	XP_011543157.1:p.Leu1474Arg
XM_011544856.1:c.4415T>G	XP_011543158.1:p.Leu1472Arg
XM_011544857.1:c.4394T>G	XP_011543159.1:p.Leu1465Arg
XM_011544858.1:c.4442T>G	XP_011543160.1:p.Leu1481Arg
XM_011544859.1:c.3305T>G	XP_011543161.1:p.Leu1102Arg
XM_005277932.3:c.3293T>G	XP_005277989.1:p.Leu1098Arg
XM_017017387.1:c.4430T>G	XP_016872876.1:p.Leu1477Arg
XM_017017388.1:c.4430T>G	XP_016872877.1:p.Leu1477Arg
XM_017017389.1:c.4403T>G	XP_016872878.1:p.Leu1468Arg
XM_017017390.1:c.2720T>G	XP_016872879.1:p.Leu907Arg
NM_133266.5:c.2666T>G	NP_573573.2:p.Leu889Arg
NR_110766.2:n.834+4440T>G
NM_001379226.1:c.3293T>G	NP_001366155.1:p.Leu1098Arg
NM_012309.5:c.4430T>G MANE Select	NP_036441.2:p.Leu1477Arg