Canonical Allele Identifier: CA381676597

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319485A>C (hg19) ; chr11:g.70473380A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473380A>C , CM000673.2:g.70473380A>C	GRCh38
NC_000011.9:g.70319485A>C , CM000673.1:g.70319485A>C	GRCh37
NC_000011.8:g.69997133A>C	NCBI36
NG_042866.1:g.656417T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3272T>G	ENSP00000345193.7:p.Val1091Gly
ENST00000412252.6:c.817T>G	ENSP00000414876.2:n.817T>G
ENST00000601538.6:c.5039T>G MANE Select	ENSP00000469689.2:p.Val1680Gly
ENST00000654939.1:c.2548T>G
ENST00000656230.1:c.3902T>G	ENSP00000499561.1:p.Val1301Gly
ENST00000659264.1:c.3329T>G	ENSP00000499270.1:p.Val1110Gly
ENST00000338508.8:c.3275T>G	ENSP00000345193.6:p.Val1092Gly
ENST00000357171.7:c.*43T>G	ENSP00000349694.4:n.*43T>G
ENST00000409161.5:c.3251T>G	ENSP00000386491.1:p.Val1084Gly
ENST00000412252.5:c.815T>G
ENST00000423696.6:c.3902T>G	ENSP00000394536.2:p.Val1301Gly
ENST00000424924.5:c.2876T>G	ENSP00000402944.1:p.Val959Gly
ENST00000449833.6:c.3275T>G	ENSP00000399423.3:p.Val1092Gly
ENST00000601538.5:c.5039T>G	ENSP00000469689.2:p.Val1680Gly
ENST00000606715.3:n.1791T>G
NM_012309.4:c.5039T>G	NP_036441.2:p.Val1680Gly
NM_133266.4:c.3275T>G	NP_573573.2:p.Val1092Gly
NR_110766.1:n.893T>G
XM_005277930.2:c.5039T>G	XP_005277987.1:p.Val1680Gly
XM_005277932.2:c.3902T>G	XP_005277989.1:p.Val1301Gly
XM_006718478.2:c.5009T>G	XP_006718541.1:p.Val1670Gly
XM_011544854.1:c.5051T>G	XP_011543156.1:p.Val1684Gly
XM_011544855.1:c.5030T>G	XP_011543157.1:p.Val1677Gly
XM_011544856.1:c.5024T>G	XP_011543158.1:p.Val1675Gly
XM_011544857.1:c.5003T>G	XP_011543159.1:p.Val1668Gly
XM_011544859.1:c.3914T>G	XP_011543161.1:p.Val1305Gly
XM_005277932.3:c.3902T>G	XP_005277989.1:p.Val1301Gly
XM_017017387.1:c.5039T>G	XP_016872876.1:p.Val1680Gly
XM_017017388.1:c.5039T>G	XP_016872877.1:p.Val1680Gly
XM_017017389.1:c.5012T>G	XP_016872878.1:p.Val1671Gly
XM_017017390.1:c.3329T>G	XP_016872879.1:p.Val1110Gly
NM_133266.5:c.3275T>G	NP_573573.2:p.Val1092Gly
NR_110766.2:n.894T>G
NM_001379226.1:c.3902T>G	NP_001366155.1:p.Val1301Gly
NM_012309.5:c.5039T>G MANE Select	NP_036441.2:p.Val1680Gly