Canonical Allele Identifier: CA381675420

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319195G>A (hg19) ; chr11:g.70473090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473090G>A , CM000673.2:g.70473090G>A	GRCh38
NC_000011.9:g.70319195G>A , CM000673.1:g.70319195G>A	GRCh37
NC_000011.8:g.69996843G>A	NCBI36
NG_042866.1:g.656707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3562C>T	ENSP00000345193.7:p.Pro1188Ser
ENST00000412252.6:c.1107C>T	ENSP00000414876.2:n.1107C>T
ENST00000601538.6:c.5329C>T MANE Select	ENSP00000469689.2:p.Pro1777Ser
ENST00000654939.1:c.2838C>T
ENST00000656230.1:c.4192C>T	ENSP00000499561.1:p.Pro1398Ser
ENST00000659264.1:c.3619C>T	ENSP00000499270.1:p.Pro1207Ser
ENST00000338508.8:c.3565C>T	ENSP00000345193.6:p.Pro1189Ser
ENST00000357171.7:c.*333C>T	ENSP00000349694.4:n.*333C>T
ENST00000409161.5:c.3541C>T	ENSP00000386491.1:p.Pro1181Ser
ENST00000412252.5:c.1105C>T
ENST00000423696.6:c.4192C>T	ENSP00000394536.2:p.Pro1398Ser
ENST00000424924.5:c.3166C>T	ENSP00000402944.1:p.Pro1056Ser
ENST00000449833.6:c.3565C>T	ENSP00000399423.3:p.Pro1189Ser
ENST00000601538.5:c.5329C>T	ENSP00000469689.2:p.Pro1777Ser
ENST00000606715.3:n.2081C>T
NM_012309.4:c.5329C>T	NP_036441.2:p.Pro1777Ser
NM_133266.4:c.3565C>T	NP_573573.2:p.Pro1189Ser
NR_110766.1:n.1183C>T
XM_005277930.2:c.5329C>T	XP_005277987.1:p.Pro1777Ser
XM_005277932.2:c.4192C>T	XP_005277989.1:p.Pro1398Ser
XM_006718478.2:c.5299C>T	XP_006718541.1:p.Pro1767Ser
XM_011544854.1:c.5341C>T	XP_011543156.1:p.Pro1781Ser
XM_011544855.1:c.5320C>T	XP_011543157.1:p.Pro1774Ser
XM_011544856.1:c.5314C>T	XP_011543158.1:p.Pro1772Ser
XM_011544857.1:c.5293C>T	XP_011543159.1:p.Pro1765Ser
XM_011544859.1:c.4204C>T	XP_011543161.1:p.Pro1402Ser
XM_005277932.3:c.4192C>T	XP_005277989.1:p.Pro1398Ser
XM_017017387.1:c.5329C>T	XP_016872876.1:p.Pro1777Ser
XM_017017388.1:c.5329C>T	XP_016872877.1:p.Pro1777Ser
XM_017017389.1:c.5302C>T	XP_016872878.1:p.Pro1768Ser
XM_017017390.1:c.3619C>T	XP_016872879.1:p.Pro1207Ser
NM_133266.5:c.3565C>T	NP_573573.2:p.Pro1189Ser
NR_110766.2:n.1184C>T
NM_001379226.1:c.4192C>T	NP_001366155.1:p.Pro1398Ser
NM_012309.5:c.5329C>T MANE Select	NP_036441.2:p.Pro1777Ser