Canonical Allele Identifier: CA6160862

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485536G>A , CM000673.2:g.70485536G>A	GRCh38
NC_000011.9:g.70331641G>A , CM000673.1:g.70331641G>A	GRCh37
NC_000011.8:g.70009289G>A	NCBI36
NG_042866.1:g.644261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2990C>T	ENSP00000345193.7:p.Pro997Leu
ENST00000412252.6:c.757+4767C>T	ENSP00000414876.2:n.757+4767C>T
ENST00000601538.6:c.4757C>T MANE Select	ENSP00000469689.2:p.Pro1586Leu
ENST00000654939.1:c.2185C>T
ENST00000656230.1:c.3620C>T	ENSP00000499561.1:p.Pro1207Leu
ENST00000659264.1:c.3047C>T	ENSP00000499270.1:p.Pro1016Leu
ENST00000338508.8:c.2993C>T	ENSP00000345193.6:p.Pro998Leu
ENST00000357171.7:c.718+4767C>T	ENSP00000349694.4:n.718+4767C>T
ENST00000409161.5:c.2969C>T	ENSP00000386491.1:p.Pro990Leu
ENST00000412252.5:c.755+4767C>T
ENST00000423696.6:c.3620C>T	ENSP00000394536.2:p.Pro1207Leu
ENST00000424924.5:c.2594C>T	ENSP00000402944.1:p.Pro865Leu
ENST00000449833.6:c.2993C>T	ENSP00000399423.3:p.Pro998Leu
ENST00000601538.5:c.4757C>T	ENSP00000469689.2:p.Pro1586Leu
NM_012309.4:c.4757C>T	NP_036441.2:p.Pro1586Leu
NM_133266.4:c.2993C>T	NP_573573.2:p.Pro998Leu
NR_110766.1:n.833+4767C>T
XM_005277930.2:c.4757C>T	XP_005277987.1:p.Pro1586Leu
XM_005277932.2:c.3620C>T	XP_005277989.1:p.Pro1207Leu
XM_006718478.2:c.4727C>T	XP_006718541.1:p.Pro1576Leu
XM_011544854.1:c.4769C>T	XP_011543156.1:p.Pro1590Leu
XM_011544855.1:c.4748C>T	XP_011543157.1:p.Pro1583Leu
XM_011544856.1:c.4742C>T	XP_011543158.1:p.Pro1581Leu
XM_011544857.1:c.4721C>T	XP_011543159.1:p.Pro1574Leu
XM_011544858.1:c.4769C>T	XP_011543160.1:p.Pro1590Leu
XM_011544859.1:c.3632C>T	XP_011543161.1:p.Pro1211Leu
XM_005277932.3:c.3620C>T	XP_005277989.1:p.Pro1207Leu
XM_017017387.1:c.4757C>T	XP_016872876.1:p.Pro1586Leu
XM_017017388.1:c.4757C>T	XP_016872877.1:p.Pro1586Leu
XM_017017389.1:c.4730C>T	XP_016872878.1:p.Pro1577Leu
XM_017017390.1:c.3047C>T	XP_016872879.1:p.Pro1016Leu
NM_133266.5:c.2993C>T	NP_573573.2:p.Pro998Leu
NR_110766.2:n.834+4767C>T
NM_001379226.1:c.3620C>T	NP_001366155.1:p.Pro1207Leu
NM_012309.5:c.4757C>T MANE Select	NP_036441.2:p.Pro1586Leu