Canonical Allele Identifier: CA381675837

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319255G>T (hg19) ; chr11:g.70473150G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473150G>T , CM000673.2:g.70473150G>T	GRCh38
NC_000011.9:g.70319255G>T , CM000673.1:g.70319255G>T	GRCh37
NC_000011.8:g.69996903G>T	NCBI36
NG_042866.1:g.656647C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3502C>A	ENSP00000345193.7:p.Pro1168Thr
ENST00000412252.6:c.1047C>A	ENSP00000414876.2:n.1047C>A
ENST00000601538.6:c.5269C>A MANE Select	ENSP00000469689.2:p.Pro1757Thr
ENST00000654939.1:c.2778C>A
ENST00000656230.1:c.4132C>A	ENSP00000499561.1:p.Pro1378Thr
ENST00000659264.1:c.3559C>A	ENSP00000499270.1:p.Pro1187Thr
ENST00000338508.8:c.3505C>A	ENSP00000345193.6:p.Pro1169Thr
ENST00000357171.7:c.*273C>A	ENSP00000349694.4:n.*273C>A
ENST00000409161.5:c.3481C>A	ENSP00000386491.1:p.Pro1161Thr
ENST00000412252.5:c.1045C>A
ENST00000423696.6:c.4132C>A	ENSP00000394536.2:p.Pro1378Thr
ENST00000424924.5:c.3106C>A	ENSP00000402944.1:p.Pro1036Thr
ENST00000449833.6:c.3505C>A	ENSP00000399423.3:p.Pro1169Thr
ENST00000601538.5:c.5269C>A	ENSP00000469689.2:p.Pro1757Thr
ENST00000606715.3:n.2021C>A
NM_012309.4:c.5269C>A	NP_036441.2:p.Pro1757Thr
NM_133266.4:c.3505C>A	NP_573573.2:p.Pro1169Thr
NR_110766.1:n.1123C>A
XM_005277930.2:c.5269C>A	XP_005277987.1:p.Pro1757Thr
XM_005277932.2:c.4132C>A	XP_005277989.1:p.Pro1378Thr
XM_006718478.2:c.5239C>A	XP_006718541.1:p.Pro1747Thr
XM_011544854.1:c.5281C>A	XP_011543156.1:p.Pro1761Thr
XM_011544855.1:c.5260C>A	XP_011543157.1:p.Pro1754Thr
XM_011544856.1:c.5254C>A	XP_011543158.1:p.Pro1752Thr
XM_011544857.1:c.5233C>A	XP_011543159.1:p.Pro1745Thr
XM_011544859.1:c.4144C>A	XP_011543161.1:p.Pro1382Thr
XM_005277932.3:c.4132C>A	XP_005277989.1:p.Pro1378Thr
XM_017017387.1:c.5269C>A	XP_016872876.1:p.Pro1757Thr
XM_017017388.1:c.5269C>A	XP_016872877.1:p.Pro1757Thr
XM_017017389.1:c.5242C>A	XP_016872878.1:p.Pro1748Thr
XM_017017390.1:c.3559C>A	XP_016872879.1:p.Pro1187Thr
NM_133266.5:c.3505C>A	NP_573573.2:p.Pro1169Thr
NR_110766.2:n.1124C>A
NM_001379226.1:c.4132C>A	NP_001366155.1:p.Pro1378Thr
NM_012309.5:c.5269C>A MANE Select	NP_036441.2:p.Pro1757Thr