Canonical Allele Identifier: CA381676106

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319306C>A (hg19) ; chr11:g.70473201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473201C>A , CM000673.2:g.70473201C>A	GRCh38
NC_000011.9:g.70319306C>A , CM000673.1:g.70319306C>A	GRCh37
NC_000011.8:g.69996954C>A	NCBI36
NG_042866.1:g.656596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3451G>T	ENSP00000345193.7:p.Val1151Phe
ENST00000412252.6:c.996G>T	ENSP00000414876.2:n.996G>T
ENST00000601538.6:c.5218G>T MANE Select	ENSP00000469689.2:p.Val1740Phe
ENST00000654939.1:c.2727G>T
ENST00000656230.1:c.4081G>T	ENSP00000499561.1:p.Val1361Phe
ENST00000659264.1:c.3508G>T	ENSP00000499270.1:p.Val1170Phe
ENST00000338508.8:c.3454G>T	ENSP00000345193.6:p.Val1152Phe
ENST00000357171.7:c.*222G>T	ENSP00000349694.4:n.*222G>T
ENST00000409161.5:c.3430G>T	ENSP00000386491.1:p.Val1144Phe
ENST00000412252.5:c.994G>T
ENST00000423696.6:c.4081G>T	ENSP00000394536.2:p.Val1361Phe
ENST00000424924.5:c.3055G>T	ENSP00000402944.1:p.Val1019Phe
ENST00000449833.6:c.3454G>T	ENSP00000399423.3:p.Val1152Phe
ENST00000601538.5:c.5218G>T	ENSP00000469689.2:p.Val1740Phe
ENST00000606715.3:n.1970G>T
NM_012309.4:c.5218G>T	NP_036441.2:p.Val1740Phe
NM_133266.4:c.3454G>T	NP_573573.2:p.Val1152Phe
NR_110766.1:n.1072G>T
XM_005277930.2:c.5218G>T	XP_005277987.1:p.Val1740Phe
XM_005277932.2:c.4081G>T	XP_005277989.1:p.Val1361Phe
XM_006718478.2:c.5188G>T	XP_006718541.1:p.Val1730Phe
XM_011544854.1:c.5230G>T	XP_011543156.1:p.Val1744Phe
XM_011544855.1:c.5209G>T	XP_011543157.1:p.Val1737Phe
XM_011544856.1:c.5203G>T	XP_011543158.1:p.Val1735Phe
XM_011544857.1:c.5182G>T	XP_011543159.1:p.Val1728Phe
XM_011544859.1:c.4093G>T	XP_011543161.1:p.Val1365Phe
XM_005277932.3:c.4081G>T	XP_005277989.1:p.Val1361Phe
XM_017017387.1:c.5218G>T	XP_016872876.1:p.Val1740Phe
XM_017017388.1:c.5218G>T	XP_016872877.1:p.Val1740Phe
XM_017017389.1:c.5191G>T	XP_016872878.1:p.Val1731Phe
XM_017017390.1:c.3508G>T	XP_016872879.1:p.Val1170Phe
NM_133266.5:c.3454G>T	NP_573573.2:p.Val1152Phe
NR_110766.2:n.1073G>T
NM_001379226.1:c.4081G>T	NP_001366155.1:p.Val1361Phe
NM_012309.5:c.5218G>T MANE Select	NP_036441.2:p.Val1740Phe