Canonical Allele Identifier: CA381676779

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319518G>T (hg19) ; chr11:g.70473413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473413G>T , CM000673.2:g.70473413G>T	GRCh38
NC_000011.9:g.70319518G>T , CM000673.1:g.70319518G>T	GRCh37
NC_000011.8:g.69997166G>T	NCBI36
NG_042866.1:g.656384C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3239C>A	ENSP00000345193.7:p.Ser1080Ter
ENST00000412252.6:c.784C>A	ENSP00000414876.2:n.784C>A
ENST00000601538.6:c.5006C>A MANE Select	ENSP00000469689.2:p.Ser1669Ter
ENST00000654939.1:c.2515C>A
ENST00000656230.1:c.3869C>A	ENSP00000499561.1:p.Ser1290Ter
ENST00000659264.1:c.3296C>A	ENSP00000499270.1:p.Ser1099Ter
ENST00000338508.8:c.3242C>A	ENSP00000345193.6:p.Ser1081Ter
ENST00000357171.7:c.*10C>A	ENSP00000349694.4:n.*10C>A
ENST00000409161.5:c.3218C>A	ENSP00000386491.1:p.Ser1073Ter
ENST00000412252.5:c.782C>A
ENST00000423696.6:c.3869C>A	ENSP00000394536.2:p.Ser1290Ter
ENST00000424924.5:c.2843C>A	ENSP00000402944.1:p.Ser948Ter
ENST00000449833.6:c.3242C>A	ENSP00000399423.3:p.Ser1081Ter
ENST00000601538.5:c.5006C>A	ENSP00000469689.2:p.Ser1669Ter
ENST00000606715.3:n.1758C>A
NM_012309.4:c.5006C>A	NP_036441.2:p.Ser1669Ter
NM_133266.4:c.3242C>A	NP_573573.2:p.Ser1081Ter
NR_110766.1:n.860C>A
XM_005277930.2:c.5006C>A	XP_005277987.1:p.Ser1669Ter
XM_005277932.2:c.3869C>A	XP_005277989.1:p.Ser1290Ter
XM_006718478.2:c.4976C>A	XP_006718541.1:p.Ser1659Ter
XM_011544854.1:c.5018C>A	XP_011543156.1:p.Ser1673Ter
XM_011544855.1:c.4997C>A	XP_011543157.1:p.Ser1666Ter
XM_011544856.1:c.4991C>A	XP_011543158.1:p.Ser1664Ter
XM_011544857.1:c.4970C>A	XP_011543159.1:p.Ser1657Ter
XM_011544859.1:c.3881C>A	XP_011543161.1:p.Ser1294Ter
XM_005277932.3:c.3869C>A	XP_005277989.1:p.Ser1290Ter
XM_017017387.1:c.5006C>A	XP_016872876.1:p.Ser1669Ter
XM_017017388.1:c.5006C>A	XP_016872877.1:p.Ser1669Ter
XM_017017389.1:c.4979C>A	XP_016872878.1:p.Ser1660Ter
XM_017017390.1:c.3296C>A	XP_016872879.1:p.Ser1099Ter
NM_133266.5:c.3242C>A	NP_573573.2:p.Ser1081Ter
NR_110766.2:n.861C>A
NM_001379226.1:c.3869C>A	NP_001366155.1:p.Ser1290Ter
NM_012309.5:c.5006C>A MANE Select	NP_036441.2:p.Ser1669Ter