Canonical Allele Identifier: CA381676002

Gene: SHANK2

Linked Data

• dbSNP Id: rs1565516956
• gnomAD v4: 11-70473180-G-A
• MyVariant Identifiers: chr11:g.70319285G>A (hg19) ; chr11:g.70473180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473180G>A , CM000673.2:g.70473180G>A	GRCh38
NC_000011.9:g.70319285G>A , CM000673.1:g.70319285G>A	GRCh37
NC_000011.8:g.69996933G>A	NCBI36
NG_042866.1:g.656617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3472C>T	ENSP00000345193.7:p.Pro1158Ser
ENST00000412252.6:c.1017C>T	ENSP00000414876.2:n.1017C>T
ENST00000601538.6:c.5239C>T MANE Select	ENSP00000469689.2:p.Pro1747Ser
ENST00000654939.1:c.2748C>T
ENST00000656230.1:c.4102C>T	ENSP00000499561.1:p.Pro1368Ser
ENST00000659264.1:c.3529C>T	ENSP00000499270.1:p.Pro1177Ser
ENST00000338508.8:c.3475C>T	ENSP00000345193.6:p.Pro1159Ser
ENST00000357171.7:c.*243C>T	ENSP00000349694.4:n.*243C>T
ENST00000409161.5:c.3451C>T	ENSP00000386491.1:p.Pro1151Ser
ENST00000412252.5:c.1015C>T
ENST00000423696.6:c.4102C>T	ENSP00000394536.2:p.Pro1368Ser
ENST00000424924.5:c.3076C>T	ENSP00000402944.1:p.Pro1026Ser
ENST00000449833.6:c.3475C>T	ENSP00000399423.3:p.Pro1159Ser
ENST00000601538.5:c.5239C>T	ENSP00000469689.2:p.Pro1747Ser
ENST00000606715.3:n.1991C>T
NM_012309.4:c.5239C>T	NP_036441.2:p.Pro1747Ser
NM_133266.4:c.3475C>T	NP_573573.2:p.Pro1159Ser
NR_110766.1:n.1093C>T
XM_005277930.2:c.5239C>T	XP_005277987.1:p.Pro1747Ser
XM_005277932.2:c.4102C>T	XP_005277989.1:p.Pro1368Ser
XM_006718478.2:c.5209C>T	XP_006718541.1:p.Pro1737Ser
XM_011544854.1:c.5251C>T	XP_011543156.1:p.Pro1751Ser
XM_011544855.1:c.5230C>T	XP_011543157.1:p.Pro1744Ser
XM_011544856.1:c.5224C>T	XP_011543158.1:p.Pro1742Ser
XM_011544857.1:c.5203C>T	XP_011543159.1:p.Pro1735Ser
XM_011544859.1:c.4114C>T	XP_011543161.1:p.Pro1372Ser
XM_005277932.3:c.4102C>T	XP_005277989.1:p.Pro1368Ser
XM_017017387.1:c.5239C>T	XP_016872876.1:p.Pro1747Ser
XM_017017388.1:c.5239C>T	XP_016872877.1:p.Pro1747Ser
XM_017017389.1:c.5212C>T	XP_016872878.1:p.Pro1738Ser
XM_017017390.1:c.3529C>T	XP_016872879.1:p.Pro1177Ser
NM_133266.5:c.3475C>T	NP_573573.2:p.Pro1159Ser
NR_110766.2:n.1094C>T
NM_001379226.1:c.4102C>T	NP_001366155.1:p.Pro1368Ser
NM_012309.5:c.5239C>T MANE Select	NP_036441.2:p.Pro1747Ser