Canonical Allele Identifier: CA381675797

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319242C>T (hg19) ; chr11:g.70473137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473137C>T , CM000673.2:g.70473137C>T	GRCh38
NC_000011.9:g.70319242C>T , CM000673.1:g.70319242C>T	GRCh37
NC_000011.8:g.69996890C>T	NCBI36
NG_042866.1:g.656660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3515G>A	ENSP00000345193.7:p.Ser1172Asn
ENST00000412252.6:c.1060G>A	ENSP00000414876.2:n.1060G>A
ENST00000601538.6:c.5282G>A MANE Select	ENSP00000469689.2:p.Ser1761Asn
ENST00000654939.1:c.2791G>A
ENST00000656230.1:c.4145G>A	ENSP00000499561.1:p.Ser1382Asn
ENST00000659264.1:c.3572G>A	ENSP00000499270.1:p.Ser1191Asn
ENST00000338508.8:c.3518G>A	ENSP00000345193.6:p.Ser1173Asn
ENST00000357171.7:c.*286G>A	ENSP00000349694.4:n.*286G>A
ENST00000409161.5:c.3494G>A	ENSP00000386491.1:p.Ser1165Asn
ENST00000412252.5:c.1058G>A
ENST00000423696.6:c.4145G>A	ENSP00000394536.2:p.Ser1382Asn
ENST00000424924.5:c.3119G>A	ENSP00000402944.1:p.Ser1040Asn
ENST00000449833.6:c.3518G>A	ENSP00000399423.3:p.Ser1173Asn
ENST00000601538.5:c.5282G>A	ENSP00000469689.2:p.Ser1761Asn
ENST00000606715.3:n.2034G>A
NM_012309.4:c.5282G>A	NP_036441.2:p.Ser1761Asn
NM_133266.4:c.3518G>A	NP_573573.2:p.Ser1173Asn
NR_110766.1:n.1136G>A
XM_005277930.2:c.5282G>A	XP_005277987.1:p.Ser1761Asn
XM_005277932.2:c.4145G>A	XP_005277989.1:p.Ser1382Asn
XM_006718478.2:c.5252G>A	XP_006718541.1:p.Ser1751Asn
XM_011544854.1:c.5294G>A	XP_011543156.1:p.Ser1765Asn
XM_011544855.1:c.5273G>A	XP_011543157.1:p.Ser1758Asn
XM_011544856.1:c.5267G>A	XP_011543158.1:p.Ser1756Asn
XM_011544857.1:c.5246G>A	XP_011543159.1:p.Ser1749Asn
XM_011544859.1:c.4157G>A	XP_011543161.1:p.Ser1386Asn
XM_005277932.3:c.4145G>A	XP_005277989.1:p.Ser1382Asn
XM_017017387.1:c.5282G>A	XP_016872876.1:p.Ser1761Asn
XM_017017388.1:c.5282G>A	XP_016872877.1:p.Ser1761Asn
XM_017017389.1:c.5255G>A	XP_016872878.1:p.Ser1752Asn
XM_017017390.1:c.3572G>A	XP_016872879.1:p.Ser1191Asn
NM_133266.5:c.3518G>A	NP_573573.2:p.Ser1173Asn
NR_110766.2:n.1137G>A
NM_001379226.1:c.4145G>A	NP_001366155.1:p.Ser1382Asn
NM_012309.5:c.5282G>A MANE Select	NP_036441.2:p.Ser1761Asn