Canonical Allele Identifier: CA381676931

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319542C>A (hg19) ; chr11:g.70473437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473437C>A , CM000673.2:g.70473437C>A	GRCh38
NC_000011.9:g.70319542C>A , CM000673.1:g.70319542C>A	GRCh37
NC_000011.8:g.69997190C>A	NCBI36
NG_042866.1:g.656360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3215G>T	ENSP00000345193.7:p.Ser1072Ile
ENST00000412252.6:c.760G>T	ENSP00000414876.2:p.Ala254Ser
ENST00000601538.6:c.4982G>T MANE Select	ENSP00000469689.2:p.Ser1661Ile
ENST00000654939.1:c.2491G>T
ENST00000656230.1:c.3845G>T	ENSP00000499561.1:p.Ser1282Ile
ENST00000659264.1:c.3272G>T	ENSP00000499270.1:p.Ser1091Ile
ENST00000338508.8:c.3218G>T	ENSP00000345193.6:p.Ser1073Ile
ENST00000357171.7:c.721G>T	ENSP00000349694.4:p.Ala241Ser
ENST00000409161.5:c.3194G>T	ENSP00000386491.1:p.Ser1065Ile
ENST00000412252.5:c.758G>T
ENST00000423696.6:c.3845G>T	ENSP00000394536.2:p.Ser1282Ile
ENST00000424924.5:c.2819G>T	ENSP00000402944.1:p.Ser940Ile
ENST00000449833.6:c.3218G>T	ENSP00000399423.3:p.Ser1073Ile
ENST00000601538.5:c.4982G>T	ENSP00000469689.2:p.Ser1661Ile
ENST00000606715.3:n.1734G>T
NM_012309.4:c.4982G>T	NP_036441.2:p.Ser1661Ile
NM_133266.4:c.3218G>T	NP_573573.2:p.Ser1073Ile
NR_110766.1:n.836G>T
XM_005277930.2:c.4982G>T	XP_005277987.1:p.Ser1661Ile
XM_005277932.2:c.3845G>T	XP_005277989.1:p.Ser1282Ile
XM_006718478.2:c.4952G>T	XP_006718541.1:p.Ser1651Ile
XM_011544854.1:c.4994G>T	XP_011543156.1:p.Ser1665Ile
XM_011544855.1:c.4973G>T	XP_011543157.1:p.Ser1658Ile
XM_011544856.1:c.4967G>T	XP_011543158.1:p.Ser1656Ile
XM_011544857.1:c.4946G>T	XP_011543159.1:p.Ser1649Ile
XM_011544859.1:c.3857G>T	XP_011543161.1:p.Ser1286Ile
XM_005277932.3:c.3845G>T	XP_005277989.1:p.Ser1282Ile
XM_017017387.1:c.4982G>T	XP_016872876.1:p.Ser1661Ile
XM_017017388.1:c.4982G>T	XP_016872877.1:p.Ser1661Ile
XM_017017389.1:c.4955G>T	XP_016872878.1:p.Ser1652Ile
XM_017017390.1:c.3272G>T	XP_016872879.1:p.Ser1091Ile
NM_133266.5:c.3218G>T	NP_573573.2:p.Ser1073Ile
NR_110766.2:n.837G>T
NM_001379226.1:c.3845G>T	NP_001366155.1:p.Ser1282Ile
NM_012309.5:c.4982G>T MANE Select	NP_036441.2:p.Ser1661Ile