Canonical Allele Identifier: CA214634

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485367C>T , CM000673.2:g.70485367C>T	GRCh38
NC_000011.9:g.70331472C>T , CM000673.1:g.70331472C>T	GRCh37
NC_000011.8:g.70009120C>T	NCBI36
NG_042866.1:g.644430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3159G>A	ENSP00000345193.7:p.Pro1053=
ENST00000412252.6:c.757+4936G>A	ENSP00000414876.2:n.757+4936G>A
ENST00000601538.6:c.4926G>A MANE Select	ENSP00000469689.2:p.Pro1642=
ENST00000654939.1:c.2354G>A
ENST00000656230.1:c.3789G>A	ENSP00000499561.1:p.Pro1263=
ENST00000659264.1:c.3216G>A	ENSP00000499270.1:p.Pro1072=
ENST00000338508.8:c.3162G>A	ENSP00000345193.6:p.Pro1054=
ENST00000357171.7:c.718+4936G>A	ENSP00000349694.4:n.718+4936G>A
ENST00000409161.5:c.3138G>A	ENSP00000386491.1:p.Pro1046=
ENST00000412252.5:c.755+4936G>A
ENST00000423696.6:c.3789G>A	ENSP00000394536.2:p.Pro1263=
ENST00000424924.5:c.2763G>A	ENSP00000402944.1:p.Pro921=
ENST00000449833.6:c.3162G>A	ENSP00000399423.3:p.Pro1054=
ENST00000601538.5:c.4926G>A	ENSP00000469689.2:p.Pro1642=
NM_012309.4:c.4926G>A	NP_036441.2:p.Pro1642=
NM_133266.4:c.3162G>A	NP_573573.2:p.Pro1054=
NR_110766.1:n.833+4936G>A
XM_005277930.2:c.4926G>A	XP_005277987.1:p.Pro1642=
XM_005277932.2:c.3789G>A	XP_005277989.1:p.Pro1263=
XM_006718478.2:c.4896G>A	XP_006718541.1:p.Pro1632=
XM_011544854.1:c.4938G>A	XP_011543156.1:p.Pro1646=
XM_011544855.1:c.4917G>A	XP_011543157.1:p.Pro1639=
XM_011544856.1:c.4911G>A	XP_011543158.1:p.Pro1637=
XM_011544857.1:c.4890G>A	XP_011543159.1:p.Pro1630=
XM_011544858.1:c.4938G>A	XP_011543160.1:p.Pro1646=
XM_011544859.1:c.3801G>A	XP_011543161.1:p.Pro1267=
XM_005277932.3:c.3789G>A	XP_005277989.1:p.Pro1263=
XM_017017387.1:c.4926G>A	XP_016872876.1:p.Pro1642=
XM_017017388.1:c.4926G>A	XP_016872877.1:p.Pro1642=
XM_017017389.1:c.4899G>A	XP_016872878.1:p.Pro1633=
XM_017017390.1:c.3216G>A	XP_016872879.1:p.Pro1072=
NM_133266.5:c.3162G>A	NP_573573.2:p.Pro1054=
NR_110766.2:n.834+4936G>A
NM_001379226.1:c.3789G>A	NP_001366155.1:p.Pro1263=
NM_012309.5:c.4926G>A MANE Select	NP_036441.2:p.Pro1642=