Canonical Allele Identifier: CA381675744

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473131-G-A
• MyVariant Identifiers: chr11:g.70319236G>A (hg19) ; chr11:g.70473131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473131G>A , CM000673.2:g.70473131G>A	GRCh38
NC_000011.9:g.70319236G>A , CM000673.1:g.70319236G>A	GRCh37
NC_000011.8:g.69996884G>A	NCBI36
NG_042866.1:g.656666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3521C>T	ENSP00000345193.7:p.Ser1174Leu
ENST00000412252.6:c.1066C>T	ENSP00000414876.2:n.1066C>T
ENST00000601538.6:c.5288C>T MANE Select	ENSP00000469689.2:p.Ser1763Leu
ENST00000654939.1:c.2797C>T
ENST00000656230.1:c.4151C>T	ENSP00000499561.1:p.Ser1384Leu
ENST00000659264.1:c.3578C>T	ENSP00000499270.1:p.Ser1193Leu
ENST00000338508.8:c.3524C>T	ENSP00000345193.6:p.Ser1175Leu
ENST00000357171.7:c.*292C>T	ENSP00000349694.4:n.*292C>T
ENST00000409161.5:c.3500C>T	ENSP00000386491.1:p.Ser1167Leu
ENST00000412252.5:c.1064C>T
ENST00000423696.6:c.4151C>T	ENSP00000394536.2:p.Ser1384Leu
ENST00000424924.5:c.3125C>T	ENSP00000402944.1:p.Ser1042Leu
ENST00000449833.6:c.3524C>T	ENSP00000399423.3:p.Ser1175Leu
ENST00000601538.5:c.5288C>T	ENSP00000469689.2:p.Ser1763Leu
ENST00000606715.3:n.2040C>T
NM_012309.4:c.5288C>T	NP_036441.2:p.Ser1763Leu
NM_133266.4:c.3524C>T	NP_573573.2:p.Ser1175Leu
NR_110766.1:n.1142C>T
XM_005277930.2:c.5288C>T	XP_005277987.1:p.Ser1763Leu
XM_005277932.2:c.4151C>T	XP_005277989.1:p.Ser1384Leu
XM_006718478.2:c.5258C>T	XP_006718541.1:p.Ser1753Leu
XM_011544854.1:c.5300C>T	XP_011543156.1:p.Ser1767Leu
XM_011544855.1:c.5279C>T	XP_011543157.1:p.Ser1760Leu
XM_011544856.1:c.5273C>T	XP_011543158.1:p.Ser1758Leu
XM_011544857.1:c.5252C>T	XP_011543159.1:p.Ser1751Leu
XM_011544859.1:c.4163C>T	XP_011543161.1:p.Ser1388Leu
XM_005277932.3:c.4151C>T	XP_005277989.1:p.Ser1384Leu
XM_017017387.1:c.5288C>T	XP_016872876.1:p.Ser1763Leu
XM_017017388.1:c.5288C>T	XP_016872877.1:p.Ser1763Leu
XM_017017389.1:c.5261C>T	XP_016872878.1:p.Ser1754Leu
XM_017017390.1:c.3578C>T	XP_016872879.1:p.Ser1193Leu
NM_133266.5:c.3524C>T	NP_573573.2:p.Ser1175Leu
NR_110766.2:n.1143C>T
NM_001379226.1:c.4151C>T	NP_001366155.1:p.Ser1384Leu
NM_012309.5:c.5288C>T MANE Select	NP_036441.2:p.Ser1763Leu