Canonical Allele Identifier: CA475471050

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473085-A-G
• MyVariant Identifiers: chr11:g.70319190A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3567T>C	ENSP00000345193.7:p.Phe1189=
ENST00000412252.6:c.1112T>C	ENSP00000414876.2:n.1112T>C
ENST00000601538.6:c.5334T>C MANE Select	ENSP00000469689.2:p.Phe1778=
ENST00000654939.1:c.2843T>C
ENST00000656230.1:c.4197T>C	ENSP00000499561.1:p.Phe1399=
ENST00000659264.1:c.3624T>C	ENSP00000499270.1:p.Phe1208=
ENST00000338508.8:c.3570T>C	ENSP00000345193.6:p.Phe1190=
ENST00000357171.7:c.*338T>C	ENSP00000349694.4:n.*338T>C
ENST00000409161.5:c.3546T>C	ENSP00000386491.1:p.Phe1182=
ENST00000412252.5:c.1110T>C
ENST00000423696.6:c.4197T>C	ENSP00000394536.2:p.Phe1399=
ENST00000424924.5:c.3171T>C	ENSP00000402944.1:p.Phe1057=
ENST00000449833.6:c.3570T>C	ENSP00000399423.3:p.Phe1190=
ENST00000601538.5:c.5334T>C	ENSP00000469689.2:p.Phe1778=
ENST00000606715.3:n.2086T>C
NM_012309.4:c.5334T>C	NP_036441.2:p.Phe1778=
NM_133266.4:c.3570T>C	NP_573573.2:p.Phe1190=
NR_110766.1:n.1188T>C
XM_005277930.2:c.5334T>C	XP_005277987.1:p.Phe1778=
XM_005277932.2:c.4197T>C	XP_005277989.1:p.Phe1399=
XM_006718478.2:c.5304T>C	XP_006718541.1:p.Phe1768=
XM_011544854.1:c.5346T>C	XP_011543156.1:p.Phe1782=
XM_011544855.1:c.5325T>C	XP_011543157.1:p.Phe1775=
XM_011544856.1:c.5319T>C	XP_011543158.1:p.Phe1773=
XM_011544857.1:c.5298T>C	XP_011543159.1:p.Phe1766=
XM_011544859.1:c.4209T>C	XP_011543161.1:p.Phe1403=
XM_005277932.3:c.4197T>C	XP_005277989.1:p.Phe1399=
XM_017017387.1:c.5334T>C	XP_016872876.1:p.Phe1778=
XM_017017388.1:c.5334T>C	XP_016872877.1:p.Phe1778=
XM_017017389.1:c.5307T>C	XP_016872878.1:p.Phe1769=
XM_017017390.1:c.3624T>C	XP_016872879.1:p.Phe1208=
NM_133266.5:c.3570T>C	NP_573573.2:p.Phe1190=
NR_110766.2:n.1189T>C
NM_001379226.1:c.4197T>C	NP_001366155.1:p.Phe1399=
NM_012309.5:c.5334T>C MANE Select	NP_036441.2:p.Phe1778=