Canonical Allele Identifier: CA381676729

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319506C>A (hg19) ; chr11:g.70473401C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473401C>A , CM000673.2:g.70473401C>A	GRCh38
NC_000011.9:g.70319506C>A , CM000673.1:g.70319506C>A	GRCh37
NC_000011.8:g.69997154C>A	NCBI36
NG_042866.1:g.656396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3251G>T	ENSP00000345193.7:p.Ser1084Ile
ENST00000412252.6:c.796G>T	ENSP00000414876.2:n.796G>T
ENST00000601538.6:c.5018G>T MANE Select	ENSP00000469689.2:p.Ser1673Ile
ENST00000654939.1:c.2527G>T
ENST00000656230.1:c.3881G>T	ENSP00000499561.1:p.Ser1294Ile
ENST00000659264.1:c.3308G>T	ENSP00000499270.1:p.Ser1103Ile
ENST00000338508.8:c.3254G>T	ENSP00000345193.6:p.Ser1085Ile
ENST00000357171.7:c.*22G>T	ENSP00000349694.4:n.*22G>T
ENST00000409161.5:c.3230G>T	ENSP00000386491.1:p.Ser1077Ile
ENST00000412252.5:c.794G>T
ENST00000423696.6:c.3881G>T	ENSP00000394536.2:p.Ser1294Ile
ENST00000424924.5:c.2855G>T	ENSP00000402944.1:p.Ser952Ile
ENST00000449833.6:c.3254G>T	ENSP00000399423.3:p.Ser1085Ile
ENST00000601538.5:c.5018G>T	ENSP00000469689.2:p.Ser1673Ile
ENST00000606715.3:n.1770G>T
NM_012309.4:c.5018G>T	NP_036441.2:p.Ser1673Ile
NM_133266.4:c.3254G>T	NP_573573.2:p.Ser1085Ile
NR_110766.1:n.872G>T
XM_005277930.2:c.5018G>T	XP_005277987.1:p.Ser1673Ile
XM_005277932.2:c.3881G>T	XP_005277989.1:p.Ser1294Ile
XM_006718478.2:c.4988G>T	XP_006718541.1:p.Ser1663Ile
XM_011544854.1:c.5030G>T	XP_011543156.1:p.Ser1677Ile
XM_011544855.1:c.5009G>T	XP_011543157.1:p.Ser1670Ile
XM_011544856.1:c.5003G>T	XP_011543158.1:p.Ser1668Ile
XM_011544857.1:c.4982G>T	XP_011543159.1:p.Ser1661Ile
XM_011544859.1:c.3893G>T	XP_011543161.1:p.Ser1298Ile
XM_005277932.3:c.3881G>T	XP_005277989.1:p.Ser1294Ile
XM_017017387.1:c.5018G>T	XP_016872876.1:p.Ser1673Ile
XM_017017388.1:c.5018G>T	XP_016872877.1:p.Ser1673Ile
XM_017017389.1:c.4991G>T	XP_016872878.1:p.Ser1664Ile
XM_017017390.1:c.3308G>T	XP_016872879.1:p.Ser1103Ile
NM_133266.5:c.3254G>T	NP_573573.2:p.Ser1085Ile
NR_110766.2:n.873G>T
NM_001379226.1:c.3881G>T	NP_001366155.1:p.Ser1294Ile
NM_012309.5:c.5018G>T MANE Select	NP_036441.2:p.Ser1673Ile