Canonical Allele Identifier: CA381676241

Gene: SHANK2

Linked Data

• COSMIC: COSM6014543 ; COSM6014544 ; COSM6014545
• MyVariant Identifiers: chr11:g.70319350G>A (hg19) ; chr11:g.70473245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473245G>A , CM000673.2:g.70473245G>A	GRCh38
NC_000011.9:g.70319350G>A , CM000673.1:g.70319350G>A	GRCh37
NC_000011.8:g.69996998G>A	NCBI36
NG_042866.1:g.656552C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3407C>T	ENSP00000345193.7:p.Pro1136Leu
ENST00000412252.6:c.952C>T	ENSP00000414876.2:n.952C>T
ENST00000601538.6:c.5174C>T MANE Select	ENSP00000469689.2:p.Pro1725Leu
ENST00000654939.1:c.2683C>T
ENST00000656230.1:c.4037C>T	ENSP00000499561.1:p.Pro1346Leu
ENST00000659264.1:c.3464C>T	ENSP00000499270.1:p.Pro1155Leu
ENST00000338508.8:c.3410C>T	ENSP00000345193.6:p.Pro1137Leu
ENST00000357171.7:c.*178C>T	ENSP00000349694.4:n.*178C>T
ENST00000409161.5:c.3386C>T	ENSP00000386491.1:p.Pro1129Leu
ENST00000412252.5:c.950C>T
ENST00000423696.6:c.4037C>T	ENSP00000394536.2:p.Pro1346Leu
ENST00000424924.5:c.3011C>T	ENSP00000402944.1:p.Pro1004Leu
ENST00000449833.6:c.3410C>T	ENSP00000399423.3:p.Pro1137Leu
ENST00000601538.5:c.5174C>T	ENSP00000469689.2:p.Pro1725Leu
ENST00000606715.3:n.1926C>T
NM_012309.4:c.5174C>T	NP_036441.2:p.Pro1725Leu
NM_133266.4:c.3410C>T	NP_573573.2:p.Pro1137Leu
NR_110766.1:n.1028C>T
XM_005277930.2:c.5174C>T	XP_005277987.1:p.Pro1725Leu
XM_005277932.2:c.4037C>T	XP_005277989.1:p.Pro1346Leu
XM_006718478.2:c.5144C>T	XP_006718541.1:p.Pro1715Leu
XM_011544854.1:c.5186C>T	XP_011543156.1:p.Pro1729Leu
XM_011544855.1:c.5165C>T	XP_011543157.1:p.Pro1722Leu
XM_011544856.1:c.5159C>T	XP_011543158.1:p.Pro1720Leu
XM_011544857.1:c.5138C>T	XP_011543159.1:p.Pro1713Leu
XM_011544859.1:c.4049C>T	XP_011543161.1:p.Pro1350Leu
XM_005277932.3:c.4037C>T	XP_005277989.1:p.Pro1346Leu
XM_017017387.1:c.5174C>T	XP_016872876.1:p.Pro1725Leu
XM_017017388.1:c.5174C>T	XP_016872877.1:p.Pro1725Leu
XM_017017389.1:c.5147C>T	XP_016872878.1:p.Pro1716Leu
XM_017017390.1:c.3464C>T	XP_016872879.1:p.Pro1155Leu
NM_133266.5:c.3410C>T	NP_573573.2:p.Pro1137Leu
NR_110766.2:n.1029C>T
NM_001379226.1:c.4037C>T	NP_001366155.1:p.Pro1346Leu
NM_012309.5:c.5174C>T MANE Select	NP_036441.2:p.Pro1725Leu