Canonical Allele Identifier: CA381676104

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319305A>T (hg19) ; chr11:g.70473200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473200A>T , CM000673.2:g.70473200A>T	GRCh38
NC_000011.9:g.70319305A>T , CM000673.1:g.70319305A>T	GRCh37
NC_000011.8:g.69996953A>T	NCBI36
NG_042866.1:g.656597T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3452T>A	ENSP00000345193.7:p.Val1151Asp
ENST00000412252.6:c.997T>A	ENSP00000414876.2:n.997T>A
ENST00000601538.6:c.5219T>A MANE Select	ENSP00000469689.2:p.Val1740Asp
ENST00000654939.1:c.2728T>A
ENST00000656230.1:c.4082T>A	ENSP00000499561.1:p.Val1361Asp
ENST00000659264.1:c.3509T>A	ENSP00000499270.1:p.Val1170Asp
ENST00000338508.8:c.3455T>A	ENSP00000345193.6:p.Val1152Asp
ENST00000357171.7:c.*223T>A	ENSP00000349694.4:n.*223T>A
ENST00000409161.5:c.3431T>A	ENSP00000386491.1:p.Val1144Asp
ENST00000412252.5:c.995T>A
ENST00000423696.6:c.4082T>A	ENSP00000394536.2:p.Val1361Asp
ENST00000424924.5:c.3056T>A	ENSP00000402944.1:p.Val1019Asp
ENST00000449833.6:c.3455T>A	ENSP00000399423.3:p.Val1152Asp
ENST00000601538.5:c.5219T>A	ENSP00000469689.2:p.Val1740Asp
ENST00000606715.3:n.1971T>A
NM_012309.4:c.5219T>A	NP_036441.2:p.Val1740Asp
NM_133266.4:c.3455T>A	NP_573573.2:p.Val1152Asp
NR_110766.1:n.1073T>A
XM_005277930.2:c.5219T>A	XP_005277987.1:p.Val1740Asp
XM_005277932.2:c.4082T>A	XP_005277989.1:p.Val1361Asp
XM_006718478.2:c.5189T>A	XP_006718541.1:p.Val1730Asp
XM_011544854.1:c.5231T>A	XP_011543156.1:p.Val1744Asp
XM_011544855.1:c.5210T>A	XP_011543157.1:p.Val1737Asp
XM_011544856.1:c.5204T>A	XP_011543158.1:p.Val1735Asp
XM_011544857.1:c.5183T>A	XP_011543159.1:p.Val1728Asp
XM_011544859.1:c.4094T>A	XP_011543161.1:p.Val1365Asp
XM_005277932.3:c.4082T>A	XP_005277989.1:p.Val1361Asp
XM_017017387.1:c.5219T>A	XP_016872876.1:p.Val1740Asp
XM_017017388.1:c.5219T>A	XP_016872877.1:p.Val1740Asp
XM_017017389.1:c.5192T>A	XP_016872878.1:p.Val1731Asp
XM_017017390.1:c.3509T>A	XP_016872879.1:p.Val1170Asp
NM_133266.5:c.3455T>A	NP_573573.2:p.Val1152Asp
NR_110766.2:n.1074T>A
NM_001379226.1:c.4082T>A	NP_001366155.1:p.Val1361Asp
NM_012309.5:c.5219T>A MANE Select	NP_036441.2:p.Val1740Asp