Canonical Allele Identifier: CA381684918

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486422T>G , CM000673.2:g.70486422T>G	GRCh38
NC_000011.9:g.70332527T>G , CM000673.1:g.70332527T>G	GRCh37
NC_000011.8:g.70010175T>G	NCBI36
NG_042866.1:g.643375A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2104A>C	ENSP00000345193.7:p.Lys702Gln
ENST00000412252.6:c.757+3881A>C	ENSP00000414876.2:n.757+3881A>C
ENST00000601538.6:c.3871A>C MANE Select	ENSP00000469689.2:p.Lys1291Gln
ENST00000654939.1:c.1299A>C
ENST00000656230.1:c.2734A>C	ENSP00000499561.1:p.Lys912Gln
ENST00000659264.1:c.2161A>C	ENSP00000499270.1:p.Lys721Gln
ENST00000338508.8:c.2107A>C	ENSP00000345193.6:p.Lys703Gln
ENST00000357171.7:c.718+3881A>C	ENSP00000349694.4:n.718+3881A>C
ENST00000409161.5:c.2083A>C	ENSP00000386491.1:p.Lys695Gln
ENST00000412252.5:c.755+3881A>C
ENST00000423696.6:c.2734A>C	ENSP00000394536.2:p.Lys912Gln
ENST00000424924.5:c.1708A>C	ENSP00000402944.1:p.Lys570Gln
ENST00000449833.6:c.2107A>C	ENSP00000399423.3:p.Lys703Gln
ENST00000601538.5:c.3871A>C	ENSP00000469689.2:p.Lys1291Gln
NM_012309.4:c.3871A>C	NP_036441.2:p.Lys1291Gln
NM_133266.4:c.2107A>C	NP_573573.2:p.Lys703Gln
NR_110766.1:n.833+3881A>C
XM_005277930.2:c.3871A>C	XP_005277987.1:p.Lys1291Gln
XM_005277932.2:c.2734A>C	XP_005277989.1:p.Lys912Gln
XM_006718478.2:c.3841A>C	XP_006718541.1:p.Lys1281Gln
XM_011544854.1:c.3883A>C	XP_011543156.1:p.Lys1295Gln
XM_011544855.1:c.3862A>C	XP_011543157.1:p.Lys1288Gln
XM_011544856.1:c.3856A>C	XP_011543158.1:p.Lys1286Gln
XM_011544857.1:c.3835A>C	XP_011543159.1:p.Lys1279Gln
XM_011544858.1:c.3883A>C	XP_011543160.1:p.Lys1295Gln
XM_011544859.1:c.2746A>C	XP_011543161.1:p.Lys916Gln
XM_005277932.3:c.2734A>C	XP_005277989.1:p.Lys912Gln
XM_017017387.1:c.3871A>C	XP_016872876.1:p.Lys1291Gln
XM_017017388.1:c.3871A>C	XP_016872877.1:p.Lys1291Gln
XM_017017389.1:c.3844A>C	XP_016872878.1:p.Lys1282Gln
XM_017017390.1:c.2161A>C	XP_016872879.1:p.Lys721Gln
NM_133266.5:c.2107A>C	NP_573573.2:p.Lys703Gln
NR_110766.2:n.834+3881A>C
NM_001379226.1:c.2734A>C	NP_001366155.1:p.Lys912Gln
NM_012309.5:c.3871A>C MANE Select	NP_036441.2:p.Lys1291Gln