Canonical Allele Identifier: CA381676317

Gene: SHANK2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3370T>G	ENSP00000345193.7:p.Ser1124Ala
ENST00000412252.6:c.915T>G	ENSP00000414876.2:n.915T>G
ENST00000601538.6:c.5137T>G MANE Select	ENSP00000469689.2:p.Ser1713Ala
ENST00000654939.1:c.2646T>G
ENST00000656230.1:c.4000T>G	ENSP00000499561.1:p.Ser1334Ala
ENST00000659264.1:c.3427T>G	ENSP00000499270.1:p.Ser1143Ala
ENST00000338508.8:c.3373T>G	ENSP00000345193.6:p.Ser1125Ala
ENST00000357171.7:c.*141T>G	ENSP00000349694.4:n.*141T>G
ENST00000409161.5:c.3349T>G	ENSP00000386491.1:p.Ser1117Ala
ENST00000412252.5:c.913T>G
ENST00000423696.6:c.4000T>G	ENSP00000394536.2:p.Ser1334Ala
ENST00000424924.5:c.2974T>G	ENSP00000402944.1:p.Ser992Ala
ENST00000449833.6:c.3373T>G	ENSP00000399423.3:p.Ser1125Ala
ENST00000601538.5:c.5137T>G	ENSP00000469689.2:p.Ser1713Ala
ENST00000606715.3:n.1889T>G
NM_012309.4:c.5137T>G	NP_036441.2:p.Ser1713Ala
NM_133266.4:c.3373T>G	NP_573573.2:p.Ser1125Ala
NR_110766.1:n.991T>G
XM_005277930.2:c.5137T>G	XP_005277987.1:p.Ser1713Ala
XM_005277932.2:c.4000T>G	XP_005277989.1:p.Ser1334Ala
XM_006718478.2:c.5107T>G	XP_006718541.1:p.Ser1703Ala
XM_011544854.1:c.5149T>G	XP_011543156.1:p.Ser1717Ala
XM_011544855.1:c.5128T>G	XP_011543157.1:p.Ser1710Ala
XM_011544856.1:c.5122T>G	XP_011543158.1:p.Ser1708Ala
XM_011544857.1:c.5101T>G	XP_011543159.1:p.Ser1701Ala
XM_011544859.1:c.4012T>G	XP_011543161.1:p.Ser1338Ala
XM_005277932.3:c.4000T>G	XP_005277989.1:p.Ser1334Ala
XM_017017387.1:c.5137T>G	XP_016872876.1:p.Ser1713Ala
XM_017017388.1:c.5137T>G	XP_016872877.1:p.Ser1713Ala
XM_017017389.1:c.5110T>G	XP_016872878.1:p.Ser1704Ala
XM_017017390.1:c.3427T>G	XP_016872879.1:p.Ser1143Ala
NM_133266.5:c.3373T>G	NP_573573.2:p.Ser1125Ala
NR_110766.2:n.992T>G
NM_001379226.1:c.4000T>G	NP_001366155.1:p.Ser1334Ala
NM_012309.5:c.5137T>G MANE Select	NP_036441.2:p.Ser1713Ala