Canonical Allele Identifier: CA214649

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473428A>G , CM000673.2:g.70473428A>G	GRCh38
NC_000011.9:g.70319533A>G , CM000673.1:g.70319533A>G	GRCh37
NC_000011.8:g.69997181A>G	NCBI36
NG_042866.1:g.656369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3224T>C	ENSP00000345193.7:p.Ile1075Thr
ENST00000412252.6:c.769T>C	ENSP00000414876.2:p.Ser257Pro
ENST00000601538.6:c.4991T>C MANE Select	ENSP00000469689.2:p.Ile1664Thr
ENST00000654939.1:c.2500T>C
ENST00000656230.1:c.3854T>C	ENSP00000499561.1:p.Ile1285Thr
ENST00000659264.1:c.3281T>C	ENSP00000499270.1:p.Ile1094Thr
ENST00000338508.8:c.3227T>C	ENSP00000345193.6:p.Ile1076Thr
ENST00000357171.7:c.730T>C	ENSP00000349694.4:p.Ser244Pro
ENST00000409161.5:c.3203T>C	ENSP00000386491.1:p.Ile1068Thr
ENST00000412252.5:c.767T>C
ENST00000423696.6:c.3854T>C	ENSP00000394536.2:p.Ile1285Thr
ENST00000424924.5:c.2828T>C	ENSP00000402944.1:p.Ile943Thr
ENST00000449833.6:c.3227T>C	ENSP00000399423.3:p.Ile1076Thr
ENST00000601538.5:c.4991T>C	ENSP00000469689.2:p.Ile1664Thr
ENST00000606715.3:n.1743T>C
NM_012309.4:c.4991T>C	NP_036441.2:p.Ile1664Thr
NM_133266.4:c.3227T>C	NP_573573.2:p.Ile1076Thr
NR_110766.1:n.845T>C
XM_005277930.2:c.4991T>C	XP_005277987.1:p.Ile1664Thr
XM_005277932.2:c.3854T>C	XP_005277989.1:p.Ile1285Thr
XM_006718478.2:c.4961T>C	XP_006718541.1:p.Ile1654Thr
XM_011544854.1:c.5003T>C	XP_011543156.1:p.Ile1668Thr
XM_011544855.1:c.4982T>C	XP_011543157.1:p.Ile1661Thr
XM_011544856.1:c.4976T>C	XP_011543158.1:p.Ile1659Thr
XM_011544857.1:c.4955T>C	XP_011543159.1:p.Ile1652Thr
XM_011544859.1:c.3866T>C	XP_011543161.1:p.Ile1289Thr
XM_005277932.3:c.3854T>C	XP_005277989.1:p.Ile1285Thr
XM_017017387.1:c.4991T>C	XP_016872876.1:p.Ile1664Thr
XM_017017388.1:c.4991T>C	XP_016872877.1:p.Ile1664Thr
XM_017017389.1:c.4964T>C	XP_016872878.1:p.Ile1655Thr
XM_017017390.1:c.3281T>C	XP_016872879.1:p.Ile1094Thr
NM_133266.5:c.3227T>C	NP_573573.2:p.Ile1076Thr
NR_110766.2:n.846T>C
NM_001379226.1:c.3854T>C	NP_001366155.1:p.Ile1285Thr
NM_012309.5:c.4991T>C MANE Select	NP_036441.2:p.Ile1664Thr