Canonical Allele Identifier: CA381676399

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319429T>A (hg19) ; chr11:g.70473324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473324T>A , CM000673.2:g.70473324T>A	GRCh38
NC_000011.9:g.70319429T>A , CM000673.1:g.70319429T>A	GRCh37
NC_000011.8:g.69997077T>A	NCBI36
NG_042866.1:g.656473A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3328A>T	ENSP00000345193.7:p.Ser1110Cys
ENST00000412252.6:c.873A>T	ENSP00000414876.2:n.873A>T
ENST00000601538.6:c.5095A>T MANE Select	ENSP00000469689.2:p.Ser1699Cys
ENST00000654939.1:c.2604A>T
ENST00000656230.1:c.3958A>T	ENSP00000499561.1:p.Ser1320Cys
ENST00000659264.1:c.3385A>T	ENSP00000499270.1:p.Ser1129Cys
ENST00000338508.8:c.3331A>T	ENSP00000345193.6:p.Ser1111Cys
ENST00000357171.7:c.*99A>T	ENSP00000349694.4:n.*99A>T
ENST00000409161.5:c.3307A>T	ENSP00000386491.1:p.Ser1103Cys
ENST00000412252.5:c.871A>T
ENST00000423696.6:c.3958A>T	ENSP00000394536.2:p.Ser1320Cys
ENST00000424924.5:c.2932A>T	ENSP00000402944.1:p.Ser978Cys
ENST00000449833.6:c.3331A>T	ENSP00000399423.3:p.Ser1111Cys
ENST00000601538.5:c.5095A>T	ENSP00000469689.2:p.Ser1699Cys
ENST00000606715.3:n.1847A>T
NM_012309.4:c.5095A>T	NP_036441.2:p.Ser1699Cys
NM_133266.4:c.3331A>T	NP_573573.2:p.Ser1111Cys
NR_110766.1:n.949A>T
XM_005277930.2:c.5095A>T	XP_005277987.1:p.Ser1699Cys
XM_005277932.2:c.3958A>T	XP_005277989.1:p.Ser1320Cys
XM_006718478.2:c.5065A>T	XP_006718541.1:p.Ser1689Cys
XM_011544854.1:c.5107A>T	XP_011543156.1:p.Ser1703Cys
XM_011544855.1:c.5086A>T	XP_011543157.1:p.Ser1696Cys
XM_011544856.1:c.5080A>T	XP_011543158.1:p.Ser1694Cys
XM_011544857.1:c.5059A>T	XP_011543159.1:p.Ser1687Cys
XM_011544859.1:c.3970A>T	XP_011543161.1:p.Ser1324Cys
XM_005277932.3:c.3958A>T	XP_005277989.1:p.Ser1320Cys
XM_017017387.1:c.5095A>T	XP_016872876.1:p.Ser1699Cys
XM_017017388.1:c.5095A>T	XP_016872877.1:p.Ser1699Cys
XM_017017389.1:c.5068A>T	XP_016872878.1:p.Ser1690Cys
XM_017017390.1:c.3385A>T	XP_016872879.1:p.Ser1129Cys
NM_133266.5:c.3331A>T	NP_573573.2:p.Ser1111Cys
NR_110766.2:n.950A>T
NM_001379226.1:c.3958A>T	NP_001366155.1:p.Ser1320Cys
NM_012309.5:c.5095A>T MANE Select	NP_036441.2:p.Ser1699Cys