Canonical Allele Identifier: CA223591898

Gene: SHANK2

Linked Data

• dbSNP Id: rs782029969
• MyVariant Identifiers: chr11:g.70319512G>A (hg19) ; chr11:g.70473407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473407G>A , CM000673.2:g.70473407G>A	GRCh38
NC_000011.9:g.70319512G>A , CM000673.1:g.70319512G>A	GRCh37
NC_000011.8:g.69997160G>A	NCBI36
NG_042866.1:g.656390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3245C>T	ENSP00000345193.7:p.Thr1082Ile
ENST00000412252.6:c.790C>T	ENSP00000414876.2:n.790C>T
ENST00000601538.6:c.5012C>T MANE Select	ENSP00000469689.2:p.Thr1671Ile
ENST00000654939.1:c.2521C>T
ENST00000656230.1:c.3875C>T	ENSP00000499561.1:p.Thr1292Ile
ENST00000659264.1:c.3302C>T	ENSP00000499270.1:p.Thr1101Ile
ENST00000338508.8:c.3248C>T	ENSP00000345193.6:p.Thr1083Ile
ENST00000357171.7:c.*16C>T	ENSP00000349694.4:n.*16C>T
ENST00000409161.5:c.3224C>T	ENSP00000386491.1:p.Thr1075Ile
ENST00000412252.5:c.788C>T
ENST00000423696.6:c.3875C>T	ENSP00000394536.2:p.Thr1292Ile
ENST00000424924.5:c.2849C>T	ENSP00000402944.1:p.Thr950Ile
ENST00000449833.6:c.3248C>T	ENSP00000399423.3:p.Thr1083Ile
ENST00000601538.5:c.5012C>T	ENSP00000469689.2:p.Thr1671Ile
ENST00000606715.3:n.1764C>T
NM_012309.4:c.5012C>T	NP_036441.2:p.Thr1671Ile
NM_133266.4:c.3248C>T	NP_573573.2:p.Thr1083Ile
NR_110766.1:n.866C>T
XM_005277930.2:c.5012C>T	XP_005277987.1:p.Thr1671Ile
XM_005277932.2:c.3875C>T	XP_005277989.1:p.Thr1292Ile
XM_006718478.2:c.4982C>T	XP_006718541.1:p.Thr1661Ile
XM_011544854.1:c.5024C>T	XP_011543156.1:p.Thr1675Ile
XM_011544855.1:c.5003C>T	XP_011543157.1:p.Thr1668Ile
XM_011544856.1:c.4997C>T	XP_011543158.1:p.Thr1666Ile
XM_011544857.1:c.4976C>T	XP_011543159.1:p.Thr1659Ile
XM_011544859.1:c.3887C>T	XP_011543161.1:p.Thr1296Ile
XM_005277932.3:c.3875C>T	XP_005277989.1:p.Thr1292Ile
XM_017017387.1:c.5012C>T	XP_016872876.1:p.Thr1671Ile
XM_017017388.1:c.5012C>T	XP_016872877.1:p.Thr1671Ile
XM_017017389.1:c.4985C>T	XP_016872878.1:p.Thr1662Ile
XM_017017390.1:c.3302C>T	XP_016872879.1:p.Thr1101Ile
NM_133266.5:c.3248C>T	NP_573573.2:p.Thr1083Ile
NR_110766.2:n.867C>T
NM_001379226.1:c.3875C>T	NP_001366155.1:p.Thr1292Ile
NM_012309.5:c.5012C>T MANE Select	NP_036441.2:p.Thr1671Ile