Canonical Allele Identifier: CA381676199

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319327G>C (hg19) ; chr11:g.70473222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473222G>C , CM000673.2:g.70473222G>C	GRCh38
NC_000011.9:g.70319327G>C , CM000673.1:g.70319327G>C	GRCh37
NC_000011.8:g.69996975G>C	NCBI36
NG_042866.1:g.656575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3430C>G	ENSP00000345193.7:p.Pro1144Ala
ENST00000412252.6:c.975C>G	ENSP00000414876.2:n.975C>G
ENST00000601538.6:c.5197C>G MANE Select	ENSP00000469689.2:p.Pro1733Ala
ENST00000654939.1:c.2706C>G
ENST00000656230.1:c.4060C>G	ENSP00000499561.1:p.Pro1354Ala
ENST00000659264.1:c.3487C>G	ENSP00000499270.1:p.Pro1163Ala
ENST00000338508.8:c.3433C>G	ENSP00000345193.6:p.Pro1145Ala
ENST00000357171.7:c.*201C>G	ENSP00000349694.4:n.*201C>G
ENST00000409161.5:c.3409C>G	ENSP00000386491.1:p.Pro1137Ala
ENST00000412252.5:c.973C>G
ENST00000423696.6:c.4060C>G	ENSP00000394536.2:p.Pro1354Ala
ENST00000424924.5:c.3034C>G	ENSP00000402944.1:p.Pro1012Ala
ENST00000449833.6:c.3433C>G	ENSP00000399423.3:p.Pro1145Ala
ENST00000601538.5:c.5197C>G	ENSP00000469689.2:p.Pro1733Ala
ENST00000606715.3:n.1949C>G
NM_012309.4:c.5197C>G	NP_036441.2:p.Pro1733Ala
NM_133266.4:c.3433C>G	NP_573573.2:p.Pro1145Ala
NR_110766.1:n.1051C>G
XM_005277930.2:c.5197C>G	XP_005277987.1:p.Pro1733Ala
XM_005277932.2:c.4060C>G	XP_005277989.1:p.Pro1354Ala
XM_006718478.2:c.5167C>G	XP_006718541.1:p.Pro1723Ala
XM_011544854.1:c.5209C>G	XP_011543156.1:p.Pro1737Ala
XM_011544855.1:c.5188C>G	XP_011543157.1:p.Pro1730Ala
XM_011544856.1:c.5182C>G	XP_011543158.1:p.Pro1728Ala
XM_011544857.1:c.5161C>G	XP_011543159.1:p.Pro1721Ala
XM_011544859.1:c.4072C>G	XP_011543161.1:p.Pro1358Ala
XM_005277932.3:c.4060C>G	XP_005277989.1:p.Pro1354Ala
XM_017017387.1:c.5197C>G	XP_016872876.1:p.Pro1733Ala
XM_017017388.1:c.5197C>G	XP_016872877.1:p.Pro1733Ala
XM_017017389.1:c.5170C>G	XP_016872878.1:p.Pro1724Ala
XM_017017390.1:c.3487C>G	XP_016872879.1:p.Pro1163Ala
NM_133266.5:c.3433C>G	NP_573573.2:p.Pro1145Ala
NR_110766.2:n.1052C>G
NM_001379226.1:c.4060C>G	NP_001366155.1:p.Pro1354Ala
NM_012309.5:c.5197C>G MANE Select	NP_036441.2:p.Pro1733Ala