Canonical Allele Identifier: CA381683620

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70486091-A-C
• MyVariant Identifiers: chr11:g.70332196A>C (hg19) ; chr11:g.70486091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486091A>C , CM000673.2:g.70486091A>C	GRCh38
NC_000011.9:g.70332196A>C , CM000673.1:g.70332196A>C	GRCh37
NC_000011.8:g.70009844A>C	NCBI36
NG_042866.1:g.643706T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2435T>G	ENSP00000345193.7:p.Leu812Trp
ENST00000412252.6:c.757+4212T>G	ENSP00000414876.2:n.757+4212T>G
ENST00000601538.6:c.4202T>G MANE Select	ENSP00000469689.2:p.Leu1401Trp
ENST00000654939.1:c.1630T>G
ENST00000656230.1:c.3065T>G	ENSP00000499561.1:p.Leu1022Trp
ENST00000659264.1:c.2492T>G	ENSP00000499270.1:p.Leu831Trp
ENST00000338508.8:c.2438T>G	ENSP00000345193.6:p.Leu813Trp
ENST00000357171.7:c.718+4212T>G	ENSP00000349694.4:n.718+4212T>G
ENST00000409161.5:c.2414T>G	ENSP00000386491.1:p.Leu805Trp
ENST00000412252.5:c.755+4212T>G
ENST00000423696.6:c.3065T>G	ENSP00000394536.2:p.Leu1022Trp
ENST00000424924.5:c.2039T>G	ENSP00000402944.1:p.Leu680Trp
ENST00000449833.6:c.2438T>G	ENSP00000399423.3:p.Leu813Trp
ENST00000601538.5:c.4202T>G	ENSP00000469689.2:p.Leu1401Trp
NM_012309.4:c.4202T>G	NP_036441.2:p.Leu1401Trp
NM_133266.4:c.2438T>G	NP_573573.2:p.Leu813Trp
NR_110766.1:n.833+4212T>G
XM_005277930.2:c.4202T>G	XP_005277987.1:p.Leu1401Trp
XM_005277932.2:c.3065T>G	XP_005277989.1:p.Leu1022Trp
XM_006718478.2:c.4172T>G	XP_006718541.1:p.Leu1391Trp
XM_011544854.1:c.4214T>G	XP_011543156.1:p.Leu1405Trp
XM_011544855.1:c.4193T>G	XP_011543157.1:p.Leu1398Trp
XM_011544856.1:c.4187T>G	XP_011543158.1:p.Leu1396Trp
XM_011544857.1:c.4166T>G	XP_011543159.1:p.Leu1389Trp
XM_011544858.1:c.4214T>G	XP_011543160.1:p.Leu1405Trp
XM_011544859.1:c.3077T>G	XP_011543161.1:p.Leu1026Trp
XM_005277932.3:c.3065T>G	XP_005277989.1:p.Leu1022Trp
XM_017017387.1:c.4202T>G	XP_016872876.1:p.Leu1401Trp
XM_017017388.1:c.4202T>G	XP_016872877.1:p.Leu1401Trp
XM_017017389.1:c.4175T>G	XP_016872878.1:p.Leu1392Trp
XM_017017390.1:c.2492T>G	XP_016872879.1:p.Leu831Trp
NM_133266.5:c.2438T>G	NP_573573.2:p.Leu813Trp
NR_110766.2:n.834+4212T>G
NM_001379226.1:c.3065T>G	NP_001366155.1:p.Leu1022Trp
NM_012309.5:c.4202T>G MANE Select	NP_036441.2:p.Leu1401Trp