Canonical Allele Identifier: CA381675375

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319188G>A (hg19) ; chr11:g.70473083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473083G>A , CM000673.2:g.70473083G>A	GRCh38
NC_000011.9:g.70319188G>A , CM000673.1:g.70319188G>A	GRCh37
NC_000011.8:g.69996836G>A	NCBI36
NG_042866.1:g.656714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3569C>T	ENSP00000345193.7:p.Thr1190Ile
ENST00000412252.6:c.1114C>T	ENSP00000414876.2:n.1114C>T
ENST00000601538.6:c.5336C>T MANE Select	ENSP00000469689.2:p.Thr1779Ile
ENST00000654939.1:c.2845C>T
ENST00000656230.1:c.4199C>T	ENSP00000499561.1:p.Thr1400Ile
ENST00000659264.1:c.3626C>T	ENSP00000499270.1:p.Thr1209Ile
ENST00000338508.8:c.3572C>T	ENSP00000345193.6:p.Thr1191Ile
ENST00000357171.7:c.*340C>T	ENSP00000349694.4:n.*340C>T
ENST00000409161.5:c.3548C>T	ENSP00000386491.1:p.Thr1183Ile
ENST00000412252.5:c.1112C>T
ENST00000423696.6:c.4199C>T	ENSP00000394536.2:p.Thr1400Ile
ENST00000424924.5:c.3173C>T	ENSP00000402944.1:p.Thr1058Ile
ENST00000449833.6:c.3572C>T	ENSP00000399423.3:p.Thr1191Ile
ENST00000601538.5:c.5336C>T	ENSP00000469689.2:p.Thr1779Ile
ENST00000606715.3:n.2088C>T
NM_012309.4:c.5336C>T	NP_036441.2:p.Thr1779Ile
NM_133266.4:c.3572C>T	NP_573573.2:p.Thr1191Ile
NR_110766.1:n.1190C>T
XM_005277930.2:c.5336C>T	XP_005277987.1:p.Thr1779Ile
XM_005277932.2:c.4199C>T	XP_005277989.1:p.Thr1400Ile
XM_006718478.2:c.5306C>T	XP_006718541.1:p.Thr1769Ile
XM_011544854.1:c.5348C>T	XP_011543156.1:p.Thr1783Ile
XM_011544855.1:c.5327C>T	XP_011543157.1:p.Thr1776Ile
XM_011544856.1:c.5321C>T	XP_011543158.1:p.Thr1774Ile
XM_011544857.1:c.5300C>T	XP_011543159.1:p.Thr1767Ile
XM_011544859.1:c.4211C>T	XP_011543161.1:p.Thr1404Ile
XM_005277932.3:c.4199C>T	XP_005277989.1:p.Thr1400Ile
XM_017017387.1:c.5336C>T	XP_016872876.1:p.Thr1779Ile
XM_017017388.1:c.5336C>T	XP_016872877.1:p.Thr1779Ile
XM_017017389.1:c.5309C>T	XP_016872878.1:p.Thr1770Ile
XM_017017390.1:c.3626C>T	XP_016872879.1:p.Thr1209Ile
NM_133266.5:c.3572C>T	NP_573573.2:p.Thr1191Ile
NR_110766.2:n.1191C>T
NM_001379226.1:c.4199C>T	NP_001366155.1:p.Thr1400Ile
NM_012309.5:c.5336C>T MANE Select	NP_036441.2:p.Thr1779Ile