Canonical Allele Identifier: CA381676397

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319428C>G (hg19) ; chr11:g.70473323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473323C>G , CM000673.2:g.70473323C>G	GRCh38
NC_000011.9:g.70319428C>G , CM000673.1:g.70319428C>G	GRCh37
NC_000011.8:g.69997076C>G	NCBI36
NG_042866.1:g.656474G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3329G>C	ENSP00000345193.7:p.Ser1110Thr
ENST00000412252.6:c.874G>C	ENSP00000414876.2:n.874G>C
ENST00000601538.6:c.5096G>C MANE Select	ENSP00000469689.2:p.Ser1699Thr
ENST00000654939.1:c.2605G>C
ENST00000656230.1:c.3959G>C	ENSP00000499561.1:p.Ser1320Thr
ENST00000659264.1:c.3386G>C	ENSP00000499270.1:p.Ser1129Thr
ENST00000338508.8:c.3332G>C	ENSP00000345193.6:p.Ser1111Thr
ENST00000357171.7:c.*100G>C	ENSP00000349694.4:n.*100G>C
ENST00000409161.5:c.3308G>C	ENSP00000386491.1:p.Ser1103Thr
ENST00000412252.5:c.872G>C
ENST00000423696.6:c.3959G>C	ENSP00000394536.2:p.Ser1320Thr
ENST00000424924.5:c.2933G>C	ENSP00000402944.1:p.Ser978Thr
ENST00000449833.6:c.3332G>C	ENSP00000399423.3:p.Ser1111Thr
ENST00000601538.5:c.5096G>C	ENSP00000469689.2:p.Ser1699Thr
ENST00000606715.3:n.1848G>C
NM_012309.4:c.5096G>C	NP_036441.2:p.Ser1699Thr
NM_133266.4:c.3332G>C	NP_573573.2:p.Ser1111Thr
NR_110766.1:n.950G>C
XM_005277930.2:c.5096G>C	XP_005277987.1:p.Ser1699Thr
XM_005277932.2:c.3959G>C	XP_005277989.1:p.Ser1320Thr
XM_006718478.2:c.5066G>C	XP_006718541.1:p.Ser1689Thr
XM_011544854.1:c.5108G>C	XP_011543156.1:p.Ser1703Thr
XM_011544855.1:c.5087G>C	XP_011543157.1:p.Ser1696Thr
XM_011544856.1:c.5081G>C	XP_011543158.1:p.Ser1694Thr
XM_011544857.1:c.5060G>C	XP_011543159.1:p.Ser1687Thr
XM_011544859.1:c.3971G>C	XP_011543161.1:p.Ser1324Thr
XM_005277932.3:c.3959G>C	XP_005277989.1:p.Ser1320Thr
XM_017017387.1:c.5096G>C	XP_016872876.1:p.Ser1699Thr
XM_017017388.1:c.5096G>C	XP_016872877.1:p.Ser1699Thr
XM_017017389.1:c.5069G>C	XP_016872878.1:p.Ser1690Thr
XM_017017390.1:c.3386G>C	XP_016872879.1:p.Ser1129Thr
NM_133266.5:c.3332G>C	NP_573573.2:p.Ser1111Thr
NR_110766.2:n.951G>C
NM_001379226.1:c.3959G>C	NP_001366155.1:p.Ser1320Thr
NM_012309.5:c.5096G>C MANE Select	NP_036441.2:p.Ser1699Thr