Canonical Allele Identifier: CA381675639

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319221A>G (hg19) ; chr11:g.70473116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473116A>G , CM000673.2:g.70473116A>G	GRCh38
NC_000011.9:g.70319221A>G , CM000673.1:g.70319221A>G	GRCh37
NC_000011.8:g.69996869A>G	NCBI36
NG_042866.1:g.656681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3536T>C	ENSP00000345193.7:p.Ile1179Thr
ENST00000412252.6:c.1081T>C	ENSP00000414876.2:n.1081T>C
ENST00000601538.6:c.5303T>C MANE Select	ENSP00000469689.2:p.Ile1768Thr
ENST00000654939.1:c.2812T>C
ENST00000656230.1:c.4166T>C	ENSP00000499561.1:p.Ile1389Thr
ENST00000659264.1:c.3593T>C	ENSP00000499270.1:p.Ile1198Thr
ENST00000338508.8:c.3539T>C	ENSP00000345193.6:p.Ile1180Thr
ENST00000357171.7:c.*307T>C	ENSP00000349694.4:n.*307T>C
ENST00000409161.5:c.3515T>C	ENSP00000386491.1:p.Ile1172Thr
ENST00000412252.5:c.1079T>C
ENST00000423696.6:c.4166T>C	ENSP00000394536.2:p.Ile1389Thr
ENST00000424924.5:c.3140T>C	ENSP00000402944.1:p.Ile1047Thr
ENST00000449833.6:c.3539T>C	ENSP00000399423.3:p.Ile1180Thr
ENST00000601538.5:c.5303T>C	ENSP00000469689.2:p.Ile1768Thr
ENST00000606715.3:n.2055T>C
NM_012309.4:c.5303T>C	NP_036441.2:p.Ile1768Thr
NM_133266.4:c.3539T>C	NP_573573.2:p.Ile1180Thr
NR_110766.1:n.1157T>C
XM_005277930.2:c.5303T>C	XP_005277987.1:p.Ile1768Thr
XM_005277932.2:c.4166T>C	XP_005277989.1:p.Ile1389Thr
XM_006718478.2:c.5273T>C	XP_006718541.1:p.Ile1758Thr
XM_011544854.1:c.5315T>C	XP_011543156.1:p.Ile1772Thr
XM_011544855.1:c.5294T>C	XP_011543157.1:p.Ile1765Thr
XM_011544856.1:c.5288T>C	XP_011543158.1:p.Ile1763Thr
XM_011544857.1:c.5267T>C	XP_011543159.1:p.Ile1756Thr
XM_011544859.1:c.4178T>C	XP_011543161.1:p.Ile1393Thr
XM_005277932.3:c.4166T>C	XP_005277989.1:p.Ile1389Thr
XM_017017387.1:c.5303T>C	XP_016872876.1:p.Ile1768Thr
XM_017017388.1:c.5303T>C	XP_016872877.1:p.Ile1768Thr
XM_017017389.1:c.5276T>C	XP_016872878.1:p.Ile1759Thr
XM_017017390.1:c.3593T>C	XP_016872879.1:p.Ile1198Thr
NM_133266.5:c.3539T>C	NP_573573.2:p.Ile1180Thr
NR_110766.2:n.1158T>C
NM_001379226.1:c.4166T>C	NP_001366155.1:p.Ile1389Thr
NM_012309.5:c.5303T>C MANE Select	NP_036441.2:p.Ile1768Thr