Canonical Allele Identifier: CA16420502

Gene: SHANK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70586855A>G , CM000673.2:g.70586855A>G	GRCh38
NC_000011.9:g.70432960A>G , CM000673.1:g.70432960A>G	GRCh37
NC_000011.8:g.70110608A>G	NCBI36
NG_042866.1:g.542942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.294+72973T>C	ENSP00000345193.7:n.294+72973T>C
ENST00000412252.6:c.294+72973T>C	ENSP00000414876.2:n.294+72973T>C
ENST00000601538.6:c.2061+72973T>C MANE Select	ENSP00000469689.2:n.2061+72973T>C
ENST00000656230.1:c.924+72973T>C	ENSP00000499561.1:n.924+72973T>C
ENST00000659264.1:c.351+72973T>C	ENSP00000499270.1:n.351+72973T>C
ENST00000338508.8:c.297+72973T>C	ENSP00000345193.6:n.297+72973T>C
ENST00000357171.7:c.258+72973T>C	ENSP00000349694.4:n.258+72973T>C
ENST00000409161.5:c.294+72973T>C	ENSP00000386491.1:n.294+72973T>C
ENST00000409530.5:c.297+72973T>C	ENSP00000387324.2:n.297+72973T>C
ENST00000412252.5:c.292+72973T>C
ENST00000423696.6:c.924+72973T>C	ENSP00000394536.2:n.924+72973T>C
ENST00000426687.2:c.290+72973T>C
ENST00000445654.2:n.84-15514T>C
ENST00000449116.6:c.297+72973T>C	ENSP00000394939.2:n.297+72973T>C
ENST00000449833.6:c.297+72973T>C	ENSP00000399423.3:n.297+72973T>C
ENST00000601538.5:c.2061+72973T>C	ENSP00000469689.2:n.2061+72973T>C
NM_012309.4:c.2061+72973T>C	NP_036441.2:n.2061+72973T>C
NM_133266.4:c.297+72973T>C	NP_573573.2:n.297+72973T>C
NR_110766.1:n.370+72973T>C
XM_005277930.2:c.2061+72973T>C	XP_005277987.1:n.2061+72973T>C
XM_005277932.2:c.924+72973T>C	XP_005277989.1:n.924+72973T>C
XM_006718478.2:c.2061+72973T>C	XP_006718541.1:n.2061+72973T>C
XM_011544854.1:c.2061+72973T>C	XP_011543156.1:n.2061+72973T>C
XM_011544855.1:c.2061+72973T>C	XP_011543157.1:n.2061+72973T>C
XM_011544856.1:c.2061+72973T>C	XP_011543158.1:n.2061+72973T>C
XM_011544857.1:c.2061+72973T>C	XP_011543159.1:n.2061+72973T>C
XM_011544858.1:c.2061+72973T>C	XP_011543160.1:n.2061+72973T>C
XM_011544859.1:c.924+72973T>C	XP_011543161.1:n.924+72973T>C
XM_005277932.3:c.924+72973T>C	XP_005277989.1:n.924+72973T>C
XM_017017387.1:c.2061+72973T>C	XP_016872876.1:n.2061+72973T>C
XM_017017388.1:c.2061+72973T>C	XP_016872877.1:n.2061+72973T>C
XM_017017389.1:c.2061+72973T>C	XP_016872878.1:n.2061+72973T>C
XM_017017390.1:c.351+72973T>C	XP_016872879.1:n.351+72973T>C
NM_133266.5:c.297+72973T>C	NP_573573.2:n.297+72973T>C
NR_110766.2:n.371+72973T>C
NM_001379226.1:c.924+72973T>C	NP_001366155.1:n.924+72973T>C
NM_012309.5:c.2061+72973T>C MANE Select	NP_036441.2:n.2061+72973T>C