Canonical Allele Identifier: CA381675384

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319190A>C (hg19) ; chr11:g.70473085A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473085A>C , CM000673.2:g.70473085A>C	GRCh38
NC_000011.9:g.70319190A>C , CM000673.1:g.70319190A>C	GRCh37
NC_000011.8:g.69996838A>C	NCBI36
NG_042866.1:g.656712T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3567T>G	ENSP00000345193.7:p.Phe1189Leu
ENST00000412252.6:c.1112T>G	ENSP00000414876.2:n.1112T>G
ENST00000601538.6:c.5334T>G MANE Select	ENSP00000469689.2:p.Phe1778Leu
ENST00000654939.1:c.2843T>G
ENST00000656230.1:c.4197T>G	ENSP00000499561.1:p.Phe1399Leu
ENST00000659264.1:c.3624T>G	ENSP00000499270.1:p.Phe1208Leu
ENST00000338508.8:c.3570T>G	ENSP00000345193.6:p.Phe1190Leu
ENST00000357171.7:c.*338T>G	ENSP00000349694.4:n.*338T>G
ENST00000409161.5:c.3546T>G	ENSP00000386491.1:p.Phe1182Leu
ENST00000412252.5:c.1110T>G
ENST00000423696.6:c.4197T>G	ENSP00000394536.2:p.Phe1399Leu
ENST00000424924.5:c.3171T>G	ENSP00000402944.1:p.Phe1057Leu
ENST00000449833.6:c.3570T>G	ENSP00000399423.3:p.Phe1190Leu
ENST00000601538.5:c.5334T>G	ENSP00000469689.2:p.Phe1778Leu
ENST00000606715.3:n.2086T>G
NM_012309.4:c.5334T>G	NP_036441.2:p.Phe1778Leu
NM_133266.4:c.3570T>G	NP_573573.2:p.Phe1190Leu
NR_110766.1:n.1188T>G
XM_005277930.2:c.5334T>G	XP_005277987.1:p.Phe1778Leu
XM_005277932.2:c.4197T>G	XP_005277989.1:p.Phe1399Leu
XM_006718478.2:c.5304T>G	XP_006718541.1:p.Phe1768Leu
XM_011544854.1:c.5346T>G	XP_011543156.1:p.Phe1782Leu
XM_011544855.1:c.5325T>G	XP_011543157.1:p.Phe1775Leu
XM_011544856.1:c.5319T>G	XP_011543158.1:p.Phe1773Leu
XM_011544857.1:c.5298T>G	XP_011543159.1:p.Phe1766Leu
XM_011544859.1:c.4209T>G	XP_011543161.1:p.Phe1403Leu
XM_005277932.3:c.4197T>G	XP_005277989.1:p.Phe1399Leu
XM_017017387.1:c.5334T>G	XP_016872876.1:p.Phe1778Leu
XM_017017388.1:c.5334T>G	XP_016872877.1:p.Phe1778Leu
XM_017017389.1:c.5307T>G	XP_016872878.1:p.Phe1769Leu
XM_017017390.1:c.3624T>G	XP_016872879.1:p.Phe1208Leu
NM_133266.5:c.3570T>G	NP_573573.2:p.Phe1190Leu
NR_110766.2:n.1189T>G
NM_001379226.1:c.4197T>G	NP_001366155.1:p.Phe1399Leu
NM_012309.5:c.5334T>G MANE Select	NP_036441.2:p.Phe1778Leu