Canonical Allele Identifier: CA381676881

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319531T>G (hg19) ; chr11:g.70473426T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473426T>G , CM000673.2:g.70473426T>G	GRCh38
NC_000011.9:g.70319531T>G , CM000673.1:g.70319531T>G	GRCh37
NC_000011.8:g.69997179T>G	NCBI36
NG_042866.1:g.656371A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3226A>C	ENSP00000345193.7:p.Met1076Leu
ENST00000412252.6:c.771A>C	ENSP00000414876.2:p.Ser257=
ENST00000601538.6:c.4993A>C MANE Select	ENSP00000469689.2:p.Met1665Leu
ENST00000654939.1:c.2502A>C
ENST00000656230.1:c.3856A>C	ENSP00000499561.1:p.Met1286Leu
ENST00000659264.1:c.3283A>C	ENSP00000499270.1:p.Met1095Leu
ENST00000338508.8:c.3229A>C	ENSP00000345193.6:p.Met1077Leu
ENST00000357171.7:c.732A>C	ENSP00000349694.4:p.Ser244=
ENST00000409161.5:c.3205A>C	ENSP00000386491.1:p.Met1069Leu
ENST00000412252.5:c.769A>C
ENST00000423696.6:c.3856A>C	ENSP00000394536.2:p.Met1286Leu
ENST00000424924.5:c.2830A>C	ENSP00000402944.1:p.Met944Leu
ENST00000449833.6:c.3229A>C	ENSP00000399423.3:p.Met1077Leu
ENST00000601538.5:c.4993A>C	ENSP00000469689.2:p.Met1665Leu
ENST00000606715.3:n.1745A>C
NM_012309.4:c.4993A>C	NP_036441.2:p.Met1665Leu
NM_133266.4:c.3229A>C	NP_573573.2:p.Met1077Leu
NR_110766.1:n.847A>C
XM_005277930.2:c.4993A>C	XP_005277987.1:p.Met1665Leu
XM_005277932.2:c.3856A>C	XP_005277989.1:p.Met1286Leu
XM_006718478.2:c.4963A>C	XP_006718541.1:p.Met1655Leu
XM_011544854.1:c.5005A>C	XP_011543156.1:p.Met1669Leu
XM_011544855.1:c.4984A>C	XP_011543157.1:p.Met1662Leu
XM_011544856.1:c.4978A>C	XP_011543158.1:p.Met1660Leu
XM_011544857.1:c.4957A>C	XP_011543159.1:p.Met1653Leu
XM_011544859.1:c.3868A>C	XP_011543161.1:p.Met1290Leu
XM_005277932.3:c.3856A>C	XP_005277989.1:p.Met1286Leu
XM_017017387.1:c.4993A>C	XP_016872876.1:p.Met1665Leu
XM_017017388.1:c.4993A>C	XP_016872877.1:p.Met1665Leu
XM_017017389.1:c.4966A>C	XP_016872878.1:p.Met1656Leu
XM_017017390.1:c.3283A>C	XP_016872879.1:p.Met1095Leu
NM_133266.5:c.3229A>C	NP_573573.2:p.Met1077Leu
NR_110766.2:n.848A>C
NM_001379226.1:c.3856A>C	NP_001366155.1:p.Met1286Leu
NM_012309.5:c.4993A>C MANE Select	NP_036441.2:p.Met1665Leu