Canonical Allele Identifier: CA475471137

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319241A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473136A>G , CM000673.2:g.70473136A>G	GRCh38
NC_000011.9:g.70319241A>G , CM000673.1:g.70319241A>G	GRCh37
NC_000011.8:g.69996889A>G	NCBI36
NG_042866.1:g.656661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3516T>C	ENSP00000345193.7:p.Ser1172=
ENST00000412252.6:c.1061T>C	ENSP00000414876.2:n.1061T>C
ENST00000601538.6:c.5283T>C MANE Select	ENSP00000469689.2:p.Ser1761=
ENST00000654939.1:c.2792T>C
ENST00000656230.1:c.4146T>C	ENSP00000499561.1:p.Ser1382=
ENST00000659264.1:c.3573T>C	ENSP00000499270.1:p.Ser1191=
ENST00000338508.8:c.3519T>C	ENSP00000345193.6:p.Ser1173=
ENST00000357171.7:c.*287T>C	ENSP00000349694.4:n.*287T>C
ENST00000409161.5:c.3495T>C	ENSP00000386491.1:p.Ser1165=
ENST00000412252.5:c.1059T>C
ENST00000423696.6:c.4146T>C	ENSP00000394536.2:p.Ser1382=
ENST00000424924.5:c.3120T>C	ENSP00000402944.1:p.Ser1040=
ENST00000449833.6:c.3519T>C	ENSP00000399423.3:p.Ser1173=
ENST00000601538.5:c.5283T>C	ENSP00000469689.2:p.Ser1761=
ENST00000606715.3:n.2035T>C
NM_012309.4:c.5283T>C	NP_036441.2:p.Ser1761=
NM_133266.4:c.3519T>C	NP_573573.2:p.Ser1173=
NR_110766.1:n.1137T>C
XM_005277930.2:c.5283T>C	XP_005277987.1:p.Ser1761=
XM_005277932.2:c.4146T>C	XP_005277989.1:p.Ser1382=
XM_006718478.2:c.5253T>C	XP_006718541.1:p.Ser1751=
XM_011544854.1:c.5295T>C	XP_011543156.1:p.Ser1765=
XM_011544855.1:c.5274T>C	XP_011543157.1:p.Ser1758=
XM_011544856.1:c.5268T>C	XP_011543158.1:p.Ser1756=
XM_011544857.1:c.5247T>C	XP_011543159.1:p.Ser1749=
XM_011544859.1:c.4158T>C	XP_011543161.1:p.Ser1386=
XM_005277932.3:c.4146T>C	XP_005277989.1:p.Ser1382=
XM_017017387.1:c.5283T>C	XP_016872876.1:p.Ser1761=
XM_017017388.1:c.5283T>C	XP_016872877.1:p.Ser1761=
XM_017017389.1:c.5256T>C	XP_016872878.1:p.Ser1752=
XM_017017390.1:c.3573T>C	XP_016872879.1:p.Ser1191=
NM_133266.5:c.3519T>C	NP_573573.2:p.Ser1173=
NR_110766.2:n.1138T>C
NM_001379226.1:c.4146T>C	NP_001366155.1:p.Ser1382=
NM_012309.5:c.5283T>C MANE Select	NP_036441.2:p.Ser1761=