Canonical Allele Identifier: CA381675518

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319209G>A (hg19) ; chr11:g.70473104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473104G>A , CM000673.2:g.70473104G>A	GRCh38
NC_000011.9:g.70319209G>A , CM000673.1:g.70319209G>A	GRCh37
NC_000011.8:g.69996857G>A	NCBI36
NG_042866.1:g.656693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3548C>T	ENSP00000345193.7:p.Pro1183Leu
ENST00000412252.6:c.1093C>T	ENSP00000414876.2:n.1093C>T
ENST00000601538.6:c.5315C>T MANE Select	ENSP00000469689.2:p.Pro1772Leu
ENST00000654939.1:c.2824C>T
ENST00000656230.1:c.4178C>T	ENSP00000499561.1:p.Pro1393Leu
ENST00000659264.1:c.3605C>T	ENSP00000499270.1:p.Pro1202Leu
ENST00000338508.8:c.3551C>T	ENSP00000345193.6:p.Pro1184Leu
ENST00000357171.7:c.*319C>T	ENSP00000349694.4:n.*319C>T
ENST00000409161.5:c.3527C>T	ENSP00000386491.1:p.Pro1176Leu
ENST00000412252.5:c.1091C>T
ENST00000423696.6:c.4178C>T	ENSP00000394536.2:p.Pro1393Leu
ENST00000424924.5:c.3152C>T	ENSP00000402944.1:p.Pro1051Leu
ENST00000449833.6:c.3551C>T	ENSP00000399423.3:p.Pro1184Leu
ENST00000601538.5:c.5315C>T	ENSP00000469689.2:p.Pro1772Leu
ENST00000606715.3:n.2067C>T
NM_012309.4:c.5315C>T	NP_036441.2:p.Pro1772Leu
NM_133266.4:c.3551C>T	NP_573573.2:p.Pro1184Leu
NR_110766.1:n.1169C>T
XM_005277930.2:c.5315C>T	XP_005277987.1:p.Pro1772Leu
XM_005277932.2:c.4178C>T	XP_005277989.1:p.Pro1393Leu
XM_006718478.2:c.5285C>T	XP_006718541.1:p.Pro1762Leu
XM_011544854.1:c.5327C>T	XP_011543156.1:p.Pro1776Leu
XM_011544855.1:c.5306C>T	XP_011543157.1:p.Pro1769Leu
XM_011544856.1:c.5300C>T	XP_011543158.1:p.Pro1767Leu
XM_011544857.1:c.5279C>T	XP_011543159.1:p.Pro1760Leu
XM_011544859.1:c.4190C>T	XP_011543161.1:p.Pro1397Leu
XM_005277932.3:c.4178C>T	XP_005277989.1:p.Pro1393Leu
XM_017017387.1:c.5315C>T	XP_016872876.1:p.Pro1772Leu
XM_017017388.1:c.5315C>T	XP_016872877.1:p.Pro1772Leu
XM_017017389.1:c.5288C>T	XP_016872878.1:p.Pro1763Leu
XM_017017390.1:c.3605C>T	XP_016872879.1:p.Pro1202Leu
NM_133266.5:c.3551C>T	NP_573573.2:p.Pro1184Leu
NR_110766.2:n.1170C>T
NM_001379226.1:c.4178C>T	NP_001366155.1:p.Pro1393Leu
NM_012309.5:c.5315C>T MANE Select	NP_036441.2:p.Pro1772Leu