Canonical Allele Identifier: CA381676155

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319315G>T (hg19) ; chr11:g.70473210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473210G>T , CM000673.2:g.70473210G>T	GRCh38
NC_000011.9:g.70319315G>T , CM000673.1:g.70319315G>T	GRCh37
NC_000011.8:g.69996963G>T	NCBI36
NG_042866.1:g.656587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3442C>A	ENSP00000345193.7:p.Leu1148Ile
ENST00000412252.6:c.987C>A	ENSP00000414876.2:n.987C>A
ENST00000601538.6:c.5209C>A MANE Select	ENSP00000469689.2:p.Leu1737Ile
ENST00000654939.1:c.2718C>A
ENST00000656230.1:c.4072C>A	ENSP00000499561.1:p.Leu1358Ile
ENST00000659264.1:c.3499C>A	ENSP00000499270.1:p.Leu1167Ile
ENST00000338508.8:c.3445C>A	ENSP00000345193.6:p.Leu1149Ile
ENST00000357171.7:c.*213C>A	ENSP00000349694.4:n.*213C>A
ENST00000409161.5:c.3421C>A	ENSP00000386491.1:p.Leu1141Ile
ENST00000412252.5:c.985C>A
ENST00000423696.6:c.4072C>A	ENSP00000394536.2:p.Leu1358Ile
ENST00000424924.5:c.3046C>A	ENSP00000402944.1:p.Leu1016Ile
ENST00000449833.6:c.3445C>A	ENSP00000399423.3:p.Leu1149Ile
ENST00000601538.5:c.5209C>A	ENSP00000469689.2:p.Leu1737Ile
ENST00000606715.3:n.1961C>A
NM_012309.4:c.5209C>A	NP_036441.2:p.Leu1737Ile
NM_133266.4:c.3445C>A	NP_573573.2:p.Leu1149Ile
NR_110766.1:n.1063C>A
XM_005277930.2:c.5209C>A	XP_005277987.1:p.Leu1737Ile
XM_005277932.2:c.4072C>A	XP_005277989.1:p.Leu1358Ile
XM_006718478.2:c.5179C>A	XP_006718541.1:p.Leu1727Ile
XM_011544854.1:c.5221C>A	XP_011543156.1:p.Leu1741Ile
XM_011544855.1:c.5200C>A	XP_011543157.1:p.Leu1734Ile
XM_011544856.1:c.5194C>A	XP_011543158.1:p.Leu1732Ile
XM_011544857.1:c.5173C>A	XP_011543159.1:p.Leu1725Ile
XM_011544859.1:c.4084C>A	XP_011543161.1:p.Leu1362Ile
XM_005277932.3:c.4072C>A	XP_005277989.1:p.Leu1358Ile
XM_017017387.1:c.5209C>A	XP_016872876.1:p.Leu1737Ile
XM_017017388.1:c.5209C>A	XP_016872877.1:p.Leu1737Ile
XM_017017389.1:c.5182C>A	XP_016872878.1:p.Leu1728Ile
XM_017017390.1:c.3499C>A	XP_016872879.1:p.Leu1167Ile
NM_133266.5:c.3445C>A	NP_573573.2:p.Leu1149Ile
NR_110766.2:n.1064C>A
NM_001379226.1:c.4072C>A	NP_001366155.1:p.Leu1358Ile
NM_012309.5:c.5209C>A MANE Select	NP_036441.2:p.Leu1737Ile