Canonical Allele Identifier: CA13387196

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70819416G>A , CM000673.2:g.70819416G>A	GRCh38
NC_000011.9:g.70665521G>A , CM000673.1:g.70665521G>A	GRCh37
NC_000011.8:g.70343169G>A	NCBI36
NG_042866.1:g.310381C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012309.5:c.1493+948C>T MANE Select	NP_036441.2:n.1493+948C>T
ENST00000601538.6:c.1493+948C>T MANE Select	ENSP00000469689.2:n.1493+948C>T
NM_001379226.1:c.356+948C>T	NP_001366155.1:n.356+948C>T
NM_012309.4:c.1493+948C>T	NP_036441.2:n.1493+948C>T
ENST00000423696.6:c.356+948C>T	ENSP00000394536.2:n.356+948C>T
ENST00000425049.1:c.434+948C>T
ENST00000460048.1:n.452+948C>T
ENST00000468619.5:c.610+948C>T
ENST00000468619.6:c.356+948C>T	ENSP00000483920.2:n.356+948C>T
ENST00000601538.5:c.1493+948C>T	ENSP00000469689.2:n.1493+948C>T
ENST00000656230.1:c.356+948C>T	ENSP00000499561.1:n.356+948C>T
XM_005277930.2:c.1493+948C>T	XP_005277987.1:n.1493+948C>T
XM_005277932.2:c.356+948C>T	XP_005277989.1:n.356+948C>T
XM_005277932.3:c.356+948C>T	XP_005277989.1:n.356+948C>T
XM_006718478.2:c.1493+948C>T	XP_006718541.1:n.1493+948C>T
XM_011544854.1:c.1493+948C>T	XP_011543156.1:n.1493+948C>T
XM_011544855.1:c.1493+948C>T	XP_011543157.1:n.1493+948C>T
XM_011544856.1:c.1493+948C>T	XP_011543158.1:n.1493+948C>T
XM_011544857.1:c.1493+948C>T	XP_011543159.1:n.1493+948C>T
XM_011544858.1:c.1493+948C>T	XP_011543160.1:n.1493+948C>T
XM_011544859.1:c.356+948C>T	XP_011543161.1:n.356+948C>T
XM_017017387.1:c.1493+948C>T	XP_016872876.1:n.1493+948C>T
XM_017017388.1:c.1493+948C>T	XP_016872877.1:n.1493+948C>T
XM_017017389.1:c.1493+948C>T	XP_016872878.1:n.1493+948C>T