Canonical Allele Identifier: CA381675860

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319260A>T (hg19) ; chr11:g.70473155A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473155A>T , CM000673.2:g.70473155A>T	GRCh38
NC_000011.9:g.70319260A>T , CM000673.1:g.70319260A>T	GRCh37
NC_000011.8:g.69996908A>T	NCBI36
NG_042866.1:g.656642T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3497T>A	ENSP00000345193.7:p.Leu1166Ter
ENST00000412252.6:c.1042T>A	ENSP00000414876.2:n.1042T>A
ENST00000601538.6:c.5264T>A MANE Select	ENSP00000469689.2:p.Leu1755Ter
ENST00000654939.1:c.2773T>A
ENST00000656230.1:c.4127T>A	ENSP00000499561.1:p.Leu1376Ter
ENST00000659264.1:c.3554T>A	ENSP00000499270.1:p.Leu1185Ter
ENST00000338508.8:c.3500T>A	ENSP00000345193.6:p.Leu1167Ter
ENST00000357171.7:c.*268T>A	ENSP00000349694.4:n.*268T>A
ENST00000409161.5:c.3476T>A	ENSP00000386491.1:p.Leu1159Ter
ENST00000412252.5:c.1040T>A
ENST00000423696.6:c.4127T>A	ENSP00000394536.2:p.Leu1376Ter
ENST00000424924.5:c.3101T>A	ENSP00000402944.1:p.Leu1034Ter
ENST00000449833.6:c.3500T>A	ENSP00000399423.3:p.Leu1167Ter
ENST00000601538.5:c.5264T>A	ENSP00000469689.2:p.Leu1755Ter
ENST00000606715.3:n.2016T>A
NM_012309.4:c.5264T>A	NP_036441.2:p.Leu1755Ter
NM_133266.4:c.3500T>A	NP_573573.2:p.Leu1167Ter
NR_110766.1:n.1118T>A
XM_005277930.2:c.5264T>A	XP_005277987.1:p.Leu1755Ter
XM_005277932.2:c.4127T>A	XP_005277989.1:p.Leu1376Ter
XM_006718478.2:c.5234T>A	XP_006718541.1:p.Leu1745Ter
XM_011544854.1:c.5276T>A	XP_011543156.1:p.Leu1759Ter
XM_011544855.1:c.5255T>A	XP_011543157.1:p.Leu1752Ter
XM_011544856.1:c.5249T>A	XP_011543158.1:p.Leu1750Ter
XM_011544857.1:c.5228T>A	XP_011543159.1:p.Leu1743Ter
XM_011544859.1:c.4139T>A	XP_011543161.1:p.Leu1380Ter
XM_005277932.3:c.4127T>A	XP_005277989.1:p.Leu1376Ter
XM_017017387.1:c.5264T>A	XP_016872876.1:p.Leu1755Ter
XM_017017388.1:c.5264T>A	XP_016872877.1:p.Leu1755Ter
XM_017017389.1:c.5237T>A	XP_016872878.1:p.Leu1746Ter
XM_017017390.1:c.3554T>A	XP_016872879.1:p.Leu1185Ter
NM_133266.5:c.3500T>A	NP_573573.2:p.Leu1167Ter
NR_110766.2:n.1119T>A
NM_001379226.1:c.4127T>A	NP_001366155.1:p.Leu1376Ter
NM_012309.5:c.5264T>A MANE Select	NP_036441.2:p.Leu1755Ter