Canonical Allele Identifier: CA13387087

Gene: SHANK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70660101G>T , CM000673.2:g.70660101G>T	GRCh38
NC_000011.9:g.70506206G>T , CM000673.1:g.70506206G>T	GRCh37
NC_000011.8:g.70183854G>T	NCBI36
NG_042866.1:g.469696C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.170-149C>A	ENSP00000345193.7:n.170-149C>A
ENST00000412252.6:c.170-149C>A	ENSP00000414876.2:n.170-149C>A
ENST00000686462.1:n.163-149C>A
ENST00000690983.1:n.363-149C>A
ENST00000601538.6:c.1937-149C>A MANE Select	ENSP00000469689.2:n.1937-149C>A
ENST00000656230.1:c.800-149C>A	ENSP00000499561.1:n.800-149C>A
ENST00000659264.1:c.227-149C>A	ENSP00000499270.1:n.227-149C>A
ENST00000338508.8:c.173-149C>A	ENSP00000345193.6:n.173-149C>A
ENST00000357171.7:c.134-149C>A	ENSP00000349694.4:n.134-149C>A
ENST00000409161.5:c.170-149C>A	ENSP00000386491.1:n.170-149C>A
ENST00000409530.5:c.173-149C>A	ENSP00000387324.2:n.173-149C>A
ENST00000412252.5:c.168-149C>A
ENST00000423696.6:c.800-149C>A	ENSP00000394536.2:n.800-149C>A
ENST00000426687.2:c.166-149C>A
ENST00000449116.6:c.173-149C>A	ENSP00000394939.2:n.173-149C>A
ENST00000449833.6:c.173-149C>A	ENSP00000399423.3:n.173-149C>A
ENST00000470759.5:n.347-149C>A
ENST00000601538.5:c.1937-149C>A	ENSP00000469689.2:n.1937-149C>A
NM_012309.4:c.1937-149C>A	NP_036441.2:n.1937-149C>A
NM_133266.4:c.173-149C>A	NP_573573.2:n.173-149C>A
NR_110766.1:n.246-149C>A
XM_005277930.2:c.1937-149C>A	XP_005277987.1:n.1937-149C>A
XM_005277932.2:c.800-149C>A	XP_005277989.1:n.800-149C>A
XM_006718478.2:c.1937-149C>A	XP_006718541.1:n.1937-149C>A
XM_011544854.1:c.1937-149C>A	XP_011543156.1:n.1937-149C>A
XM_011544855.1:c.1937-149C>A	XP_011543157.1:n.1937-149C>A
XM_011544856.1:c.1937-149C>A	XP_011543158.1:n.1937-149C>A
XM_011544857.1:c.1937-149C>A	XP_011543159.1:n.1937-149C>A
XM_011544858.1:c.1937-149C>A	XP_011543160.1:n.1937-149C>A
XM_011544859.1:c.800-149C>A	XP_011543161.1:n.800-149C>A
XM_005277932.3:c.800-149C>A	XP_005277989.1:n.800-149C>A
XM_017017387.1:c.1937-149C>A	XP_016872876.1:n.1937-149C>A
XM_017017388.1:c.1937-149C>A	XP_016872877.1:n.1937-149C>A
XM_017017389.1:c.1937-149C>A	XP_016872878.1:n.1937-149C>A
XM_017017390.1:c.227-149C>A	XP_016872879.1:n.227-149C>A
NM_133266.5:c.173-149C>A	NP_573573.2:n.173-149C>A
NR_110766.2:n.247-149C>A
NM_001379226.1:c.800-149C>A	NP_001366155.1:n.800-149C>A
NM_012309.5:c.1937-149C>A MANE Select	NP_036441.2:n.1937-149C>A