Canonical Allele Identifier: CA381676318

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319389A>C (hg19) ; chr11:g.70473284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473284A>C , CM000673.2:g.70473284A>C	GRCh38
NC_000011.9:g.70319389A>C , CM000673.1:g.70319389A>C	GRCh37
NC_000011.8:g.69997037A>C	NCBI36
NG_042866.1:g.656513T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3368T>G	ENSP00000345193.7:p.Val1123Gly
ENST00000412252.6:c.913T>G	ENSP00000414876.2:n.913T>G
ENST00000601538.6:c.5135T>G MANE Select	ENSP00000469689.2:p.Val1712Gly
ENST00000654939.1:c.2644T>G
ENST00000656230.1:c.3998T>G	ENSP00000499561.1:p.Val1333Gly
ENST00000659264.1:c.3425T>G	ENSP00000499270.1:p.Val1142Gly
ENST00000338508.8:c.3371T>G	ENSP00000345193.6:p.Val1124Gly
ENST00000357171.7:c.*139T>G	ENSP00000349694.4:n.*139T>G
ENST00000409161.5:c.3347T>G	ENSP00000386491.1:p.Val1116Gly
ENST00000412252.5:c.911T>G
ENST00000423696.6:c.3998T>G	ENSP00000394536.2:p.Val1333Gly
ENST00000424924.5:c.2972T>G	ENSP00000402944.1:p.Val991Gly
ENST00000449833.6:c.3371T>G	ENSP00000399423.3:p.Val1124Gly
ENST00000601538.5:c.5135T>G	ENSP00000469689.2:p.Val1712Gly
ENST00000606715.3:n.1887T>G
NM_012309.4:c.5135T>G	NP_036441.2:p.Val1712Gly
NM_133266.4:c.3371T>G	NP_573573.2:p.Val1124Gly
NR_110766.1:n.989T>G
XM_005277930.2:c.5135T>G	XP_005277987.1:p.Val1712Gly
XM_005277932.2:c.3998T>G	XP_005277989.1:p.Val1333Gly
XM_006718478.2:c.5105T>G	XP_006718541.1:p.Val1702Gly
XM_011544854.1:c.5147T>G	XP_011543156.1:p.Val1716Gly
XM_011544855.1:c.5126T>G	XP_011543157.1:p.Val1709Gly
XM_011544856.1:c.5120T>G	XP_011543158.1:p.Val1707Gly
XM_011544857.1:c.5099T>G	XP_011543159.1:p.Val1700Gly
XM_011544859.1:c.4010T>G	XP_011543161.1:p.Val1337Gly
XM_005277932.3:c.3998T>G	XP_005277989.1:p.Val1333Gly
XM_017017387.1:c.5135T>G	XP_016872876.1:p.Val1712Gly
XM_017017388.1:c.5135T>G	XP_016872877.1:p.Val1712Gly
XM_017017389.1:c.5108T>G	XP_016872878.1:p.Val1703Gly
XM_017017390.1:c.3425T>G	XP_016872879.1:p.Val1142Gly
NM_133266.5:c.3371T>G	NP_573573.2:p.Val1124Gly
NR_110766.2:n.990T>G
NM_001379226.1:c.3998T>G	NP_001366155.1:p.Val1333Gly
NM_012309.5:c.5135T>G MANE Select	NP_036441.2:p.Val1712Gly