Canonical Allele Identifier: CA13486450

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70468767G>C , CM000673.2:g.70468767G>C	GRCh38
NC_000011.9:g.70314872G>C , CM000673.1:g.70314872G>C	GRCh37
NC_000011.8:g.69992520G>C	NCBI36
NG_042866.1:g.661030C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601538.6:c.*4102C>G MANE Select	ENSP00000469689.2:n.*4102C>G
ENST00000409161.5:c.*4102C>G	ENSP00000386491.1:n.*4102C>G
ENST00000423696.6:c.8515C>G	ENSP00000394536.2:n.8515C>G
ENST00000449833.6:c.*4102C>G	ENSP00000399423.3:n.*4102C>G
NM_012309.4:c.*4102C>G	NP_036441.2:n.*4102C>G
NM_133266.4:c.*4102C>G	NP_573573.2:n.*4102C>G
NR_110766.1:n.5506C>G
XM_005277932.3:c.*4102C>G	XP_005277989.1:n.*4102C>G
XM_017017387.1:c.*4102C>G	XP_016872876.1:n.*4102C>G
XM_017017388.1:c.*4102C>G	XP_016872877.1:n.*4102C>G
XM_017017389.1:c.*4102C>G	XP_016872878.1:n.*4102C>G
XM_017017390.1:c.*4102C>G	XP_016872879.1:n.*4102C>G
NM_133266.5:c.*4102C>G	NP_573573.2:n.*4102C>G
NR_110766.2:n.5507C>G
NM_001379226.1:c.*4102C>G	NP_001366155.1:n.*4102C>G
NM_012309.5:c.*4102C>G MANE Select	NP_036441.2:n.*4102C>G