Canonical Allele Identifier: CA381676250

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319356G>C (hg19) ; chr11:g.70473251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473251G>C , CM000673.2:g.70473251G>C	GRCh38
NC_000011.9:g.70319356G>C , CM000673.1:g.70319356G>C	GRCh37
NC_000011.8:g.69997004G>C	NCBI36
NG_042866.1:g.656546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3401C>G	ENSP00000345193.7:p.Pro1134Arg
ENST00000412252.6:c.946C>G	ENSP00000414876.2:n.946C>G
ENST00000601538.6:c.5168C>G MANE Select	ENSP00000469689.2:p.Pro1723Arg
ENST00000654939.1:c.2677C>G
ENST00000656230.1:c.4031C>G	ENSP00000499561.1:p.Pro1344Arg
ENST00000659264.1:c.3458C>G	ENSP00000499270.1:p.Pro1153Arg
ENST00000338508.8:c.3404C>G	ENSP00000345193.6:p.Pro1135Arg
ENST00000357171.7:c.*172C>G	ENSP00000349694.4:n.*172C>G
ENST00000409161.5:c.3380C>G	ENSP00000386491.1:p.Pro1127Arg
ENST00000412252.5:c.944C>G
ENST00000423696.6:c.4031C>G	ENSP00000394536.2:p.Pro1344Arg
ENST00000424924.5:c.3005C>G	ENSP00000402944.1:p.Pro1002Arg
ENST00000449833.6:c.3404C>G	ENSP00000399423.3:p.Pro1135Arg
ENST00000601538.5:c.5168C>G	ENSP00000469689.2:p.Pro1723Arg
ENST00000606715.3:n.1920C>G
NM_012309.4:c.5168C>G	NP_036441.2:p.Pro1723Arg
NM_133266.4:c.3404C>G	NP_573573.2:p.Pro1135Arg
NR_110766.1:n.1022C>G
XM_005277930.2:c.5168C>G	XP_005277987.1:p.Pro1723Arg
XM_005277932.2:c.4031C>G	XP_005277989.1:p.Pro1344Arg
XM_006718478.2:c.5138C>G	XP_006718541.1:p.Pro1713Arg
XM_011544854.1:c.5180C>G	XP_011543156.1:p.Pro1727Arg
XM_011544855.1:c.5159C>G	XP_011543157.1:p.Pro1720Arg
XM_011544856.1:c.5153C>G	XP_011543158.1:p.Pro1718Arg
XM_011544857.1:c.5132C>G	XP_011543159.1:p.Pro1711Arg
XM_011544859.1:c.4043C>G	XP_011543161.1:p.Pro1348Arg
XM_005277932.3:c.4031C>G	XP_005277989.1:p.Pro1344Arg
XM_017017387.1:c.5168C>G	XP_016872876.1:p.Pro1723Arg
XM_017017388.1:c.5168C>G	XP_016872877.1:p.Pro1723Arg
XM_017017389.1:c.5141C>G	XP_016872878.1:p.Pro1714Arg
XM_017017390.1:c.3458C>G	XP_016872879.1:p.Pro1153Arg
NM_133266.5:c.3404C>G	NP_573573.2:p.Pro1135Arg
NR_110766.2:n.1023C>G
NM_001379226.1:c.4031C>G	NP_001366155.1:p.Pro1344Arg
NM_012309.5:c.5168C>G MANE Select	NP_036441.2:p.Pro1723Arg