Canonical Allele Identifier: CA381675704

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319230G>A (hg19) ; chr11:g.70473125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473125G>A , CM000673.2:g.70473125G>A	GRCh38
NC_000011.9:g.70319230G>A , CM000673.1:g.70319230G>A	GRCh37
NC_000011.8:g.69996878G>A	NCBI36
NG_042866.1:g.656672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3527C>T	ENSP00000345193.7:p.Ser1176Phe
ENST00000412252.6:c.1072C>T	ENSP00000414876.2:n.1072C>T
ENST00000601538.6:c.5294C>T MANE Select	ENSP00000469689.2:p.Ser1765Phe
ENST00000654939.1:c.2803C>T
ENST00000656230.1:c.4157C>T	ENSP00000499561.1:p.Ser1386Phe
ENST00000659264.1:c.3584C>T	ENSP00000499270.1:p.Ser1195Phe
ENST00000338508.8:c.3530C>T	ENSP00000345193.6:p.Ser1177Phe
ENST00000357171.7:c.*298C>T	ENSP00000349694.4:n.*298C>T
ENST00000409161.5:c.3506C>T	ENSP00000386491.1:p.Ser1169Phe
ENST00000412252.5:c.1070C>T
ENST00000423696.6:c.4157C>T	ENSP00000394536.2:p.Ser1386Phe
ENST00000424924.5:c.3131C>T	ENSP00000402944.1:p.Ser1044Phe
ENST00000449833.6:c.3530C>T	ENSP00000399423.3:p.Ser1177Phe
ENST00000601538.5:c.5294C>T	ENSP00000469689.2:p.Ser1765Phe
ENST00000606715.3:n.2046C>T
NM_012309.4:c.5294C>T	NP_036441.2:p.Ser1765Phe
NM_133266.4:c.3530C>T	NP_573573.2:p.Ser1177Phe
NR_110766.1:n.1148C>T
XM_005277930.2:c.5294C>T	XP_005277987.1:p.Ser1765Phe
XM_005277932.2:c.4157C>T	XP_005277989.1:p.Ser1386Phe
XM_006718478.2:c.5264C>T	XP_006718541.1:p.Ser1755Phe
XM_011544854.1:c.5306C>T	XP_011543156.1:p.Ser1769Phe
XM_011544855.1:c.5285C>T	XP_011543157.1:p.Ser1762Phe
XM_011544856.1:c.5279C>T	XP_011543158.1:p.Ser1760Phe
XM_011544857.1:c.5258C>T	XP_011543159.1:p.Ser1753Phe
XM_011544859.1:c.4169C>T	XP_011543161.1:p.Ser1390Phe
XM_005277932.3:c.4157C>T	XP_005277989.1:p.Ser1386Phe
XM_017017387.1:c.5294C>T	XP_016872876.1:p.Ser1765Phe
XM_017017388.1:c.5294C>T	XP_016872877.1:p.Ser1765Phe
XM_017017389.1:c.5267C>T	XP_016872878.1:p.Ser1756Phe
XM_017017390.1:c.3584C>T	XP_016872879.1:p.Ser1195Phe
NM_133266.5:c.3530C>T	NP_573573.2:p.Ser1177Phe
NR_110766.2:n.1149C>T
NM_001379226.1:c.4157C>T	NP_001366155.1:p.Ser1386Phe
NM_012309.5:c.5294C>T MANE Select	NP_036441.2:p.Ser1765Phe