Canonical Allele Identifier: CA381676494

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319464G>A (hg19) ; chr11:g.70473359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473359G>A , CM000673.2:g.70473359G>A	GRCh38
NC_000011.9:g.70319464G>A , CM000673.1:g.70319464G>A	GRCh37
NC_000011.8:g.69997112G>A	NCBI36
NG_042866.1:g.656438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3293C>T	ENSP00000345193.7:p.Pro1098Leu
ENST00000412252.6:c.838C>T	ENSP00000414876.2:n.838C>T
ENST00000601538.6:c.5060C>T MANE Select	ENSP00000469689.2:p.Pro1687Leu
ENST00000654939.1:c.2569C>T
ENST00000656230.1:c.3923C>T	ENSP00000499561.1:p.Pro1308Leu
ENST00000659264.1:c.3350C>T	ENSP00000499270.1:p.Pro1117Leu
ENST00000338508.8:c.3296C>T	ENSP00000345193.6:p.Pro1099Leu
ENST00000357171.7:c.*64C>T	ENSP00000349694.4:n.*64C>T
ENST00000409161.5:c.3272C>T	ENSP00000386491.1:p.Pro1091Leu
ENST00000412252.5:c.836C>T
ENST00000423696.6:c.3923C>T	ENSP00000394536.2:p.Pro1308Leu
ENST00000424924.5:c.2897C>T	ENSP00000402944.1:p.Pro966Leu
ENST00000449833.6:c.3296C>T	ENSP00000399423.3:p.Pro1099Leu
ENST00000601538.5:c.5060C>T	ENSP00000469689.2:p.Pro1687Leu
ENST00000606715.3:n.1812C>T
NM_012309.4:c.5060C>T	NP_036441.2:p.Pro1687Leu
NM_133266.4:c.3296C>T	NP_573573.2:p.Pro1099Leu
NR_110766.1:n.914C>T
XM_005277930.2:c.5060C>T	XP_005277987.1:p.Pro1687Leu
XM_005277932.2:c.3923C>T	XP_005277989.1:p.Pro1308Leu
XM_006718478.2:c.5030C>T	XP_006718541.1:p.Pro1677Leu
XM_011544854.1:c.5072C>T	XP_011543156.1:p.Pro1691Leu
XM_011544855.1:c.5051C>T	XP_011543157.1:p.Pro1684Leu
XM_011544856.1:c.5045C>T	XP_011543158.1:p.Pro1682Leu
XM_011544857.1:c.5024C>T	XP_011543159.1:p.Pro1675Leu
XM_011544859.1:c.3935C>T	XP_011543161.1:p.Pro1312Leu
XM_005277932.3:c.3923C>T	XP_005277989.1:p.Pro1308Leu
XM_017017387.1:c.5060C>T	XP_016872876.1:p.Pro1687Leu
XM_017017388.1:c.5060C>T	XP_016872877.1:p.Pro1687Leu
XM_017017389.1:c.5033C>T	XP_016872878.1:p.Pro1678Leu
XM_017017390.1:c.3350C>T	XP_016872879.1:p.Pro1117Leu
NM_133266.5:c.3296C>T	NP_573573.2:p.Pro1099Leu
NR_110766.2:n.915C>T
NM_001379226.1:c.3923C>T	NP_001366155.1:p.Pro1308Leu
NM_012309.5:c.5060C>T MANE Select	NP_036441.2:p.Pro1687Leu