Canonical Allele Identifier: CA381676722

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319504T>A (hg19) ; chr11:g.70473399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473399T>A , CM000673.2:g.70473399T>A	GRCh38
NC_000011.9:g.70319504T>A , CM000673.1:g.70319504T>A	GRCh37
NC_000011.8:g.69997152T>A	NCBI36
NG_042866.1:g.656398A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3253A>T	ENSP00000345193.7:p.Thr1085Ser
ENST00000412252.6:c.798A>T	ENSP00000414876.2:n.798A>T
ENST00000601538.6:c.5020A>T MANE Select	ENSP00000469689.2:p.Thr1674Ser
ENST00000654939.1:c.2529A>T
ENST00000656230.1:c.3883A>T	ENSP00000499561.1:p.Thr1295Ser
ENST00000659264.1:c.3310A>T	ENSP00000499270.1:p.Thr1104Ser
ENST00000338508.8:c.3256A>T	ENSP00000345193.6:p.Thr1086Ser
ENST00000357171.7:c.*24A>T	ENSP00000349694.4:n.*24A>T
ENST00000409161.5:c.3232A>T	ENSP00000386491.1:p.Thr1078Ser
ENST00000412252.5:c.796A>T
ENST00000423696.6:c.3883A>T	ENSP00000394536.2:p.Thr1295Ser
ENST00000424924.5:c.2857A>T	ENSP00000402944.1:p.Thr953Ser
ENST00000449833.6:c.3256A>T	ENSP00000399423.3:p.Thr1086Ser
ENST00000601538.5:c.5020A>T	ENSP00000469689.2:p.Thr1674Ser
ENST00000606715.3:n.1772A>T
NM_012309.4:c.5020A>T	NP_036441.2:p.Thr1674Ser
NM_133266.4:c.3256A>T	NP_573573.2:p.Thr1086Ser
NR_110766.1:n.874A>T
XM_005277930.2:c.5020A>T	XP_005277987.1:p.Thr1674Ser
XM_005277932.2:c.3883A>T	XP_005277989.1:p.Thr1295Ser
XM_006718478.2:c.4990A>T	XP_006718541.1:p.Thr1664Ser
XM_011544854.1:c.5032A>T	XP_011543156.1:p.Thr1678Ser
XM_011544855.1:c.5011A>T	XP_011543157.1:p.Thr1671Ser
XM_011544856.1:c.5005A>T	XP_011543158.1:p.Thr1669Ser
XM_011544857.1:c.4984A>T	XP_011543159.1:p.Thr1662Ser
XM_011544859.1:c.3895A>T	XP_011543161.1:p.Thr1299Ser
XM_005277932.3:c.3883A>T	XP_005277989.1:p.Thr1295Ser
XM_017017387.1:c.5020A>T	XP_016872876.1:p.Thr1674Ser
XM_017017388.1:c.5020A>T	XP_016872877.1:p.Thr1674Ser
XM_017017389.1:c.4993A>T	XP_016872878.1:p.Thr1665Ser
XM_017017390.1:c.3310A>T	XP_016872879.1:p.Thr1104Ser
NM_133266.5:c.3256A>T	NP_573573.2:p.Thr1086Ser
NR_110766.2:n.875A>T
NM_001379226.1:c.3883A>T	NP_001366155.1:p.Thr1295Ser
NM_012309.5:c.5020A>T MANE Select	NP_036441.2:p.Thr1674Ser