Canonical Allele Identifier: CA381676315

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319387A>T (hg19) ; chr11:g.70473282A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473282A>T , CM000673.2:g.70473282A>T	GRCh38
NC_000011.9:g.70319387A>T , CM000673.1:g.70319387A>T	GRCh37
NC_000011.8:g.69997035A>T	NCBI36
NG_042866.1:g.656515T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3370T>A	ENSP00000345193.7:p.Ser1124Thr
ENST00000412252.6:c.915T>A	ENSP00000414876.2:n.915T>A
ENST00000601538.6:c.5137T>A MANE Select	ENSP00000469689.2:p.Ser1713Thr
ENST00000654939.1:c.2646T>A
ENST00000656230.1:c.4000T>A	ENSP00000499561.1:p.Ser1334Thr
ENST00000659264.1:c.3427T>A	ENSP00000499270.1:p.Ser1143Thr
ENST00000338508.8:c.3373T>A	ENSP00000345193.6:p.Ser1125Thr
ENST00000357171.7:c.*141T>A	ENSP00000349694.4:n.*141T>A
ENST00000409161.5:c.3349T>A	ENSP00000386491.1:p.Ser1117Thr
ENST00000412252.5:c.913T>A
ENST00000423696.6:c.4000T>A	ENSP00000394536.2:p.Ser1334Thr
ENST00000424924.5:c.2974T>A	ENSP00000402944.1:p.Ser992Thr
ENST00000449833.6:c.3373T>A	ENSP00000399423.3:p.Ser1125Thr
ENST00000601538.5:c.5137T>A	ENSP00000469689.2:p.Ser1713Thr
ENST00000606715.3:n.1889T>A
NM_012309.4:c.5137T>A	NP_036441.2:p.Ser1713Thr
NM_133266.4:c.3373T>A	NP_573573.2:p.Ser1125Thr
NR_110766.1:n.991T>A
XM_005277930.2:c.5137T>A	XP_005277987.1:p.Ser1713Thr
XM_005277932.2:c.4000T>A	XP_005277989.1:p.Ser1334Thr
XM_006718478.2:c.5107T>A	XP_006718541.1:p.Ser1703Thr
XM_011544854.1:c.5149T>A	XP_011543156.1:p.Ser1717Thr
XM_011544855.1:c.5128T>A	XP_011543157.1:p.Ser1710Thr
XM_011544856.1:c.5122T>A	XP_011543158.1:p.Ser1708Thr
XM_011544857.1:c.5101T>A	XP_011543159.1:p.Ser1701Thr
XM_011544859.1:c.4012T>A	XP_011543161.1:p.Ser1338Thr
XM_005277932.3:c.4000T>A	XP_005277989.1:p.Ser1334Thr
XM_017017387.1:c.5137T>A	XP_016872876.1:p.Ser1713Thr
XM_017017388.1:c.5137T>A	XP_016872877.1:p.Ser1713Thr
XM_017017389.1:c.5110T>A	XP_016872878.1:p.Ser1704Thr
XM_017017390.1:c.3427T>A	XP_016872879.1:p.Ser1143Thr
NM_133266.5:c.3373T>A	NP_573573.2:p.Ser1125Thr
NR_110766.2:n.992T>A
NM_001379226.1:c.4000T>A	NP_001366155.1:p.Ser1334Thr
NM_012309.5:c.5137T>A MANE Select	NP_036441.2:p.Ser1713Thr