Canonical Allele Identifier: CA381675590

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319215T>G (hg19) ; chr11:g.70473110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473110T>G , CM000673.2:g.70473110T>G	GRCh38
NC_000011.9:g.70319215T>G , CM000673.1:g.70319215T>G	GRCh37
NC_000011.8:g.69996863T>G	NCBI36
NG_042866.1:g.656687A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3542A>C	ENSP00000345193.7:p.Gln1181Pro
ENST00000412252.6:c.1087A>C	ENSP00000414876.2:n.1087A>C
ENST00000601538.6:c.5309A>C MANE Select	ENSP00000469689.2:p.Gln1770Pro
ENST00000654939.1:c.2818A>C
ENST00000656230.1:c.4172A>C	ENSP00000499561.1:p.Gln1391Pro
ENST00000659264.1:c.3599A>C	ENSP00000499270.1:p.Gln1200Pro
ENST00000338508.8:c.3545A>C	ENSP00000345193.6:p.Gln1182Pro
ENST00000357171.7:c.*313A>C	ENSP00000349694.4:n.*313A>C
ENST00000409161.5:c.3521A>C	ENSP00000386491.1:p.Gln1174Pro
ENST00000412252.5:c.1085A>C
ENST00000423696.6:c.4172A>C	ENSP00000394536.2:p.Gln1391Pro
ENST00000424924.5:c.3146A>C	ENSP00000402944.1:p.Gln1049Pro
ENST00000449833.6:c.3545A>C	ENSP00000399423.3:p.Gln1182Pro
ENST00000601538.5:c.5309A>C	ENSP00000469689.2:p.Gln1770Pro
ENST00000606715.3:n.2061A>C
NM_012309.4:c.5309A>C	NP_036441.2:p.Gln1770Pro
NM_133266.4:c.3545A>C	NP_573573.2:p.Gln1182Pro
NR_110766.1:n.1163A>C
XM_005277930.2:c.5309A>C	XP_005277987.1:p.Gln1770Pro
XM_005277932.2:c.4172A>C	XP_005277989.1:p.Gln1391Pro
XM_006718478.2:c.5279A>C	XP_006718541.1:p.Gln1760Pro
XM_011544854.1:c.5321A>C	XP_011543156.1:p.Gln1774Pro
XM_011544855.1:c.5300A>C	XP_011543157.1:p.Gln1767Pro
XM_011544856.1:c.5294A>C	XP_011543158.1:p.Gln1765Pro
XM_011544857.1:c.5273A>C	XP_011543159.1:p.Gln1758Pro
XM_011544859.1:c.4184A>C	XP_011543161.1:p.Gln1395Pro
XM_005277932.3:c.4172A>C	XP_005277989.1:p.Gln1391Pro
XM_017017387.1:c.5309A>C	XP_016872876.1:p.Gln1770Pro
XM_017017388.1:c.5309A>C	XP_016872877.1:p.Gln1770Pro
XM_017017389.1:c.5282A>C	XP_016872878.1:p.Gln1761Pro
XM_017017390.1:c.3599A>C	XP_016872879.1:p.Gln1200Pro
NM_133266.5:c.3545A>C	NP_573573.2:p.Gln1182Pro
NR_110766.2:n.1164A>C
NM_001379226.1:c.4172A>C	NP_001366155.1:p.Gln1391Pro
NM_012309.5:c.5309A>C MANE Select	NP_036441.2:p.Gln1770Pro