Canonical Allele Identifier: CA381675854

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319259C>A (hg19) ; chr11:g.70473154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473154C>A , CM000673.2:g.70473154C>A	GRCh38
NC_000011.9:g.70319259C>A , CM000673.1:g.70319259C>A	GRCh37
NC_000011.8:g.69996907C>A	NCBI36
NG_042866.1:g.656643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3498G>T	ENSP00000345193.7:p.Leu1166Phe
ENST00000412252.6:c.1043G>T	ENSP00000414876.2:n.1043G>T
ENST00000601538.6:c.5265G>T MANE Select	ENSP00000469689.2:p.Leu1755Phe
ENST00000654939.1:c.2774G>T
ENST00000656230.1:c.4128G>T	ENSP00000499561.1:p.Leu1376Phe
ENST00000659264.1:c.3555G>T	ENSP00000499270.1:p.Leu1185Phe
ENST00000338508.8:c.3501G>T	ENSP00000345193.6:p.Leu1167Phe
ENST00000357171.7:c.*269G>T	ENSP00000349694.4:n.*269G>T
ENST00000409161.5:c.3477G>T	ENSP00000386491.1:p.Leu1159Phe
ENST00000412252.5:c.1041G>T
ENST00000423696.6:c.4128G>T	ENSP00000394536.2:p.Leu1376Phe
ENST00000424924.5:c.3102G>T	ENSP00000402944.1:p.Leu1034Phe
ENST00000449833.6:c.3501G>T	ENSP00000399423.3:p.Leu1167Phe
ENST00000601538.5:c.5265G>T	ENSP00000469689.2:p.Leu1755Phe
ENST00000606715.3:n.2017G>T
NM_012309.4:c.5265G>T	NP_036441.2:p.Leu1755Phe
NM_133266.4:c.3501G>T	NP_573573.2:p.Leu1167Phe
NR_110766.1:n.1119G>T
XM_005277930.2:c.5265G>T	XP_005277987.1:p.Leu1755Phe
XM_005277932.2:c.4128G>T	XP_005277989.1:p.Leu1376Phe
XM_006718478.2:c.5235G>T	XP_006718541.1:p.Leu1745Phe
XM_011544854.1:c.5277G>T	XP_011543156.1:p.Leu1759Phe
XM_011544855.1:c.5256G>T	XP_011543157.1:p.Leu1752Phe
XM_011544856.1:c.5250G>T	XP_011543158.1:p.Leu1750Phe
XM_011544857.1:c.5229G>T	XP_011543159.1:p.Leu1743Phe
XM_011544859.1:c.4140G>T	XP_011543161.1:p.Leu1380Phe
XM_005277932.3:c.4128G>T	XP_005277989.1:p.Leu1376Phe
XM_017017387.1:c.5265G>T	XP_016872876.1:p.Leu1755Phe
XM_017017388.1:c.5265G>T	XP_016872877.1:p.Leu1755Phe
XM_017017389.1:c.5238G>T	XP_016872878.1:p.Leu1746Phe
XM_017017390.1:c.3555G>T	XP_016872879.1:p.Leu1185Phe
NM_133266.5:c.3501G>T	NP_573573.2:p.Leu1167Phe
NR_110766.2:n.1120G>T
NM_001379226.1:c.4128G>T	NP_001366155.1:p.Leu1376Phe
NM_012309.5:c.5265G>T MANE Select	NP_036441.2:p.Leu1755Phe