Canonical Allele Identifier: CA381676831

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473419-G-T
• MyVariant Identifiers: chr11:g.70319524G>T (hg19) ; chr11:g.70473419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473419G>T , CM000673.2:g.70473419G>T	GRCh38
NC_000011.9:g.70319524G>T , CM000673.1:g.70319524G>T	GRCh37
NC_000011.8:g.69997172G>T	NCBI36
NG_042866.1:g.656378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3233C>A	ENSP00000345193.7:p.Thr1078Asn
ENST00000412252.6:c.778C>A	ENSP00000414876.2:n.778C>A
ENST00000601538.6:c.5000C>A MANE Select	ENSP00000469689.2:p.Thr1667Asn
ENST00000654939.1:c.2509C>A
ENST00000656230.1:c.3863C>A	ENSP00000499561.1:p.Thr1288Asn
ENST00000659264.1:c.3290C>A	ENSP00000499270.1:p.Thr1097Asn
ENST00000338508.8:c.3236C>A	ENSP00000345193.6:p.Thr1079Asn
ENST00000357171.7:c.*4C>A	ENSP00000349694.4:n.*4C>A
ENST00000409161.5:c.3212C>A	ENSP00000386491.1:p.Thr1071Asn
ENST00000412252.5:c.776C>A
ENST00000423696.6:c.3863C>A	ENSP00000394536.2:p.Thr1288Asn
ENST00000424924.5:c.2837C>A	ENSP00000402944.1:p.Thr946Asn
ENST00000449833.6:c.3236C>A	ENSP00000399423.3:p.Thr1079Asn
ENST00000601538.5:c.5000C>A	ENSP00000469689.2:p.Thr1667Asn
ENST00000606715.3:n.1752C>A
NM_012309.4:c.5000C>A	NP_036441.2:p.Thr1667Asn
NM_133266.4:c.3236C>A	NP_573573.2:p.Thr1079Asn
NR_110766.1:n.854C>A
XM_005277930.2:c.5000C>A	XP_005277987.1:p.Thr1667Asn
XM_005277932.2:c.3863C>A	XP_005277989.1:p.Thr1288Asn
XM_006718478.2:c.4970C>A	XP_006718541.1:p.Thr1657Asn
XM_011544854.1:c.5012C>A	XP_011543156.1:p.Thr1671Asn
XM_011544855.1:c.4991C>A	XP_011543157.1:p.Thr1664Asn
XM_011544856.1:c.4985C>A	XP_011543158.1:p.Thr1662Asn
XM_011544857.1:c.4964C>A	XP_011543159.1:p.Thr1655Asn
XM_011544859.1:c.3875C>A	XP_011543161.1:p.Thr1292Asn
XM_005277932.3:c.3863C>A	XP_005277989.1:p.Thr1288Asn
XM_017017387.1:c.5000C>A	XP_016872876.1:p.Thr1667Asn
XM_017017388.1:c.5000C>A	XP_016872877.1:p.Thr1667Asn
XM_017017389.1:c.4973C>A	XP_016872878.1:p.Thr1658Asn
XM_017017390.1:c.3290C>A	XP_016872879.1:p.Thr1097Asn
NM_133266.5:c.3236C>A	NP_573573.2:p.Thr1079Asn
NR_110766.2:n.855C>A
NM_001379226.1:c.3863C>A	NP_001366155.1:p.Thr1288Asn
NM_012309.5:c.5000C>A MANE Select	NP_036441.2:p.Thr1667Asn