Canonical Allele Identifier: CA381675790

Gene: SHANK2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3515G>T	ENSP00000345193.7:p.Ser1172Ile
ENST00000412252.6:c.1060G>T	ENSP00000414876.2:n.1060G>T
ENST00000601538.6:c.5282G>T MANE Select	ENSP00000469689.2:p.Ser1761Ile
ENST00000654939.1:c.2791G>T
ENST00000656230.1:c.4145G>T	ENSP00000499561.1:p.Ser1382Ile
ENST00000659264.1:c.3572G>T	ENSP00000499270.1:p.Ser1191Ile
ENST00000338508.8:c.3518G>T	ENSP00000345193.6:p.Ser1173Ile
ENST00000357171.7:c.*286G>T	ENSP00000349694.4:n.*286G>T
ENST00000409161.5:c.3494G>T	ENSP00000386491.1:p.Ser1165Ile
ENST00000412252.5:c.1058G>T
ENST00000423696.6:c.4145G>T	ENSP00000394536.2:p.Ser1382Ile
ENST00000424924.5:c.3119G>T	ENSP00000402944.1:p.Ser1040Ile
ENST00000449833.6:c.3518G>T	ENSP00000399423.3:p.Ser1173Ile
ENST00000601538.5:c.5282G>T	ENSP00000469689.2:p.Ser1761Ile
ENST00000606715.3:n.2034G>T
NM_012309.4:c.5282G>T	NP_036441.2:p.Ser1761Ile
NM_133266.4:c.3518G>T	NP_573573.2:p.Ser1173Ile
NR_110766.1:n.1136G>T
XM_005277930.2:c.5282G>T	XP_005277987.1:p.Ser1761Ile
XM_005277932.2:c.4145G>T	XP_005277989.1:p.Ser1382Ile
XM_006718478.2:c.5252G>T	XP_006718541.1:p.Ser1751Ile
XM_011544854.1:c.5294G>T	XP_011543156.1:p.Ser1765Ile
XM_011544855.1:c.5273G>T	XP_011543157.1:p.Ser1758Ile
XM_011544856.1:c.5267G>T	XP_011543158.1:p.Ser1756Ile
XM_011544857.1:c.5246G>T	XP_011543159.1:p.Ser1749Ile
XM_011544859.1:c.4157G>T	XP_011543161.1:p.Ser1386Ile
XM_005277932.3:c.4145G>T	XP_005277989.1:p.Ser1382Ile
XM_017017387.1:c.5282G>T	XP_016872876.1:p.Ser1761Ile
XM_017017388.1:c.5282G>T	XP_016872877.1:p.Ser1761Ile
XM_017017389.1:c.5255G>T	XP_016872878.1:p.Ser1752Ile
XM_017017390.1:c.3572G>T	XP_016872879.1:p.Ser1191Ile
NM_133266.5:c.3518G>T	NP_573573.2:p.Ser1173Ile
NR_110766.2:n.1137G>T
NM_001379226.1:c.4145G>T	NP_001366155.1:p.Ser1382Ile
NM_012309.5:c.5282G>T MANE Select	NP_036441.2:p.Ser1761Ile