Canonical Allele Identifier: CA381676249

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473251-G-A
• MyVariant Identifiers: chr11:g.70319356G>A (hg19) ; chr11:g.70473251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473251G>A , CM000673.2:g.70473251G>A	GRCh38
NC_000011.9:g.70319356G>A , CM000673.1:g.70319356G>A	GRCh37
NC_000011.8:g.69997004G>A	NCBI36
NG_042866.1:g.656546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3401C>T	ENSP00000345193.7:p.Pro1134Leu
ENST00000412252.6:c.946C>T	ENSP00000414876.2:n.946C>T
ENST00000601538.6:c.5168C>T MANE Select	ENSP00000469689.2:p.Pro1723Leu
ENST00000654939.1:c.2677C>T
ENST00000656230.1:c.4031C>T	ENSP00000499561.1:p.Pro1344Leu
ENST00000659264.1:c.3458C>T	ENSP00000499270.1:p.Pro1153Leu
ENST00000338508.8:c.3404C>T	ENSP00000345193.6:p.Pro1135Leu
ENST00000357171.7:c.*172C>T	ENSP00000349694.4:n.*172C>T
ENST00000409161.5:c.3380C>T	ENSP00000386491.1:p.Pro1127Leu
ENST00000412252.5:c.944C>T
ENST00000423696.6:c.4031C>T	ENSP00000394536.2:p.Pro1344Leu
ENST00000424924.5:c.3005C>T	ENSP00000402944.1:p.Pro1002Leu
ENST00000449833.6:c.3404C>T	ENSP00000399423.3:p.Pro1135Leu
ENST00000601538.5:c.5168C>T	ENSP00000469689.2:p.Pro1723Leu
ENST00000606715.3:n.1920C>T
NM_012309.4:c.5168C>T	NP_036441.2:p.Pro1723Leu
NM_133266.4:c.3404C>T	NP_573573.2:p.Pro1135Leu
NR_110766.1:n.1022C>T
XM_005277930.2:c.5168C>T	XP_005277987.1:p.Pro1723Leu
XM_005277932.2:c.4031C>T	XP_005277989.1:p.Pro1344Leu
XM_006718478.2:c.5138C>T	XP_006718541.1:p.Pro1713Leu
XM_011544854.1:c.5180C>T	XP_011543156.1:p.Pro1727Leu
XM_011544855.1:c.5159C>T	XP_011543157.1:p.Pro1720Leu
XM_011544856.1:c.5153C>T	XP_011543158.1:p.Pro1718Leu
XM_011544857.1:c.5132C>T	XP_011543159.1:p.Pro1711Leu
XM_011544859.1:c.4043C>T	XP_011543161.1:p.Pro1348Leu
XM_005277932.3:c.4031C>T	XP_005277989.1:p.Pro1344Leu
XM_017017387.1:c.5168C>T	XP_016872876.1:p.Pro1723Leu
XM_017017388.1:c.5168C>T	XP_016872877.1:p.Pro1723Leu
XM_017017389.1:c.5141C>T	XP_016872878.1:p.Pro1714Leu
XM_017017390.1:c.3458C>T	XP_016872879.1:p.Pro1153Leu
NM_133266.5:c.3404C>T	NP_573573.2:p.Pro1135Leu
NR_110766.2:n.1023C>T
NM_001379226.1:c.4031C>T	NP_001366155.1:p.Pro1344Leu
NM_012309.5:c.5168C>T MANE Select	NP_036441.2:p.Pro1723Leu