Canonical Allele Identifier: CA381676149

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319314A>G (hg19) ; chr11:g.70473209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473209A>G , CM000673.2:g.70473209A>G	GRCh38
NC_000011.9:g.70319314A>G , CM000673.1:g.70319314A>G	GRCh37
NC_000011.8:g.69996962A>G	NCBI36
NG_042866.1:g.656588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3443T>C	ENSP00000345193.7:p.Leu1148Pro
ENST00000412252.6:c.988T>C	ENSP00000414876.2:n.988T>C
ENST00000601538.6:c.5210T>C MANE Select	ENSP00000469689.2:p.Leu1737Pro
ENST00000654939.1:c.2719T>C
ENST00000656230.1:c.4073T>C	ENSP00000499561.1:p.Leu1358Pro
ENST00000659264.1:c.3500T>C	ENSP00000499270.1:p.Leu1167Pro
ENST00000338508.8:c.3446T>C	ENSP00000345193.6:p.Leu1149Pro
ENST00000357171.7:c.*214T>C	ENSP00000349694.4:n.*214T>C
ENST00000409161.5:c.3422T>C	ENSP00000386491.1:p.Leu1141Pro
ENST00000412252.5:c.986T>C
ENST00000423696.6:c.4073T>C	ENSP00000394536.2:p.Leu1358Pro
ENST00000424924.5:c.3047T>C	ENSP00000402944.1:p.Leu1016Pro
ENST00000449833.6:c.3446T>C	ENSP00000399423.3:p.Leu1149Pro
ENST00000601538.5:c.5210T>C	ENSP00000469689.2:p.Leu1737Pro
ENST00000606715.3:n.1962T>C
NM_012309.4:c.5210T>C	NP_036441.2:p.Leu1737Pro
NM_133266.4:c.3446T>C	NP_573573.2:p.Leu1149Pro
NR_110766.1:n.1064T>C
XM_005277930.2:c.5210T>C	XP_005277987.1:p.Leu1737Pro
XM_005277932.2:c.4073T>C	XP_005277989.1:p.Leu1358Pro
XM_006718478.2:c.5180T>C	XP_006718541.1:p.Leu1727Pro
XM_011544854.1:c.5222T>C	XP_011543156.1:p.Leu1741Pro
XM_011544855.1:c.5201T>C	XP_011543157.1:p.Leu1734Pro
XM_011544856.1:c.5195T>C	XP_011543158.1:p.Leu1732Pro
XM_011544857.1:c.5174T>C	XP_011543159.1:p.Leu1725Pro
XM_011544859.1:c.4085T>C	XP_011543161.1:p.Leu1362Pro
XM_005277932.3:c.4073T>C	XP_005277989.1:p.Leu1358Pro
XM_017017387.1:c.5210T>C	XP_016872876.1:p.Leu1737Pro
XM_017017388.1:c.5210T>C	XP_016872877.1:p.Leu1737Pro
XM_017017389.1:c.5183T>C	XP_016872878.1:p.Leu1728Pro
XM_017017390.1:c.3500T>C	XP_016872879.1:p.Leu1167Pro
NM_133266.5:c.3446T>C	NP_573573.2:p.Leu1149Pro
NR_110766.2:n.1065T>C
NM_001379226.1:c.4073T>C	NP_001366155.1:p.Leu1358Pro
NM_012309.5:c.5210T>C MANE Select	NP_036441.2:p.Leu1737Pro