Canonical Allele Identifier: CA381676256

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319359A>T (hg19) ; chr11:g.70473254A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473254A>T , CM000673.2:g.70473254A>T	GRCh38
NC_000011.9:g.70319359A>T , CM000673.1:g.70319359A>T	GRCh37
NC_000011.8:g.69997007A>T	NCBI36
NG_042866.1:g.656543T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3398T>A	ENSP00000345193.7:p.Leu1133Gln
ENST00000412252.6:c.943T>A	ENSP00000414876.2:n.943T>A
ENST00000601538.6:c.5165T>A MANE Select	ENSP00000469689.2:p.Leu1722Gln
ENST00000654939.1:c.2674T>A
ENST00000656230.1:c.4028T>A	ENSP00000499561.1:p.Leu1343Gln
ENST00000659264.1:c.3455T>A	ENSP00000499270.1:p.Leu1152Gln
ENST00000338508.8:c.3401T>A	ENSP00000345193.6:p.Leu1134Gln
ENST00000357171.7:c.*169T>A	ENSP00000349694.4:n.*169T>A
ENST00000409161.5:c.3377T>A	ENSP00000386491.1:p.Leu1126Gln
ENST00000412252.5:c.941T>A
ENST00000423696.6:c.4028T>A	ENSP00000394536.2:p.Leu1343Gln
ENST00000424924.5:c.3002T>A	ENSP00000402944.1:p.Leu1001Gln
ENST00000449833.6:c.3401T>A	ENSP00000399423.3:p.Leu1134Gln
ENST00000601538.5:c.5165T>A	ENSP00000469689.2:p.Leu1722Gln
ENST00000606715.3:n.1917T>A
NM_012309.4:c.5165T>A	NP_036441.2:p.Leu1722Gln
NM_133266.4:c.3401T>A	NP_573573.2:p.Leu1134Gln
NR_110766.1:n.1019T>A
XM_005277930.2:c.5165T>A	XP_005277987.1:p.Leu1722Gln
XM_005277932.2:c.4028T>A	XP_005277989.1:p.Leu1343Gln
XM_006718478.2:c.5135T>A	XP_006718541.1:p.Leu1712Gln
XM_011544854.1:c.5177T>A	XP_011543156.1:p.Leu1726Gln
XM_011544855.1:c.5156T>A	XP_011543157.1:p.Leu1719Gln
XM_011544856.1:c.5150T>A	XP_011543158.1:p.Leu1717Gln
XM_011544857.1:c.5129T>A	XP_011543159.1:p.Leu1710Gln
XM_011544859.1:c.4040T>A	XP_011543161.1:p.Leu1347Gln
XM_005277932.3:c.4028T>A	XP_005277989.1:p.Leu1343Gln
XM_017017387.1:c.5165T>A	XP_016872876.1:p.Leu1722Gln
XM_017017388.1:c.5165T>A	XP_016872877.1:p.Leu1722Gln
XM_017017389.1:c.5138T>A	XP_016872878.1:p.Leu1713Gln
XM_017017390.1:c.3455T>A	XP_016872879.1:p.Leu1152Gln
NM_133266.5:c.3401T>A	NP_573573.2:p.Leu1134Gln
NR_110766.2:n.1020T>A
NM_001379226.1:c.4028T>A	NP_001366155.1:p.Leu1343Gln
NM_012309.5:c.5165T>A MANE Select	NP_036441.2:p.Leu1722Gln