Canonical Allele Identifier: CA7224731

Gene: SYNE2 ESR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64221654G>A , CM000676.2:g.64221654G>A	GRCh38
NC_000014.8:g.64688372G>A , CM000676.1:g.64688372G>A	GRCh37
NC_000014.7:g.63758125G>A	NCBI36
NG_011756.1:g.373690G>A
NG_011756.2:g.464756G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182914.3:c.20140G>A (SYNE2) MANE Select	NP_878918.2:p.Asp6714Asn
ENST00000555002.6:c.20140G>A (SYNE2) MANE Select	ENSP00000450831.2:p.Asp6714Asn
NM_015180.4:c.20071G>A (SYNE2)	NP_055995.4:p.Asp6691Asn
NM_015180.5:c.20071G>A (SYNE2)	NP_055995.4:p.Asp6691Asn
NM_015180.6:c.20071G>A (SYNE2)	NP_055995.4:p.Asp6691Asn
NM_182910.2:c.706G>A (SYNE2)	NP_878914.1:p.Asp236Asn
NM_182913.2:c.1084G>A (SYNE2)	NP_878917.1:p.Asp362Asn
NM_182913.3:c.1084G>A (SYNE2)	NP_878917.1:p.Asp362Asn
NM_182913.4:c.1084G>A (SYNE2)	NP_878917.1:p.Asp362Asn
NM_182914.2:c.20140G>A (SYNE2)	NP_878918.2:p.Asp6714Asn
ENST00000344113.8:c.20071G>A (SYNE2)	ENSP00000341781.4:p.Asp6691Asn
ENST00000357395.7:c.19837G>A (SYNE2)	ENSP00000349969.4:p.Asp6613Asn
ENST00000358025.7:c.20140G>A (SYNE2)	ENSP00000350719.3:p.Asp6714Asn
ENST00000394768.6:c.9226G>A (SYNE2)	ENSP00000378249.2:p.Asp3076Asn
ENST00000441438.2:c.706G>A (SYNE2)	ENSP00000396794.2:p.Asp236Asn
ENST00000458046.6:c.1084G>A (SYNE2)	ENSP00000391937.2:p.Asp362Asn
ENST00000553289.5:c.*1946G>A (SYNE2)	ENSP00000451184.1:n.*1946G>A
ENST00000554584.5:c.19819G>A (SYNE2)	ENSP00000452570.1:p.Asp6607Asn
ENST00000554805.5:c.1420G>A (SYNE2)	ENSP00000450605.1:p.Asp474Asn
ENST00000554805.6:n.1990G>A (SYNE2)
ENST00000554928.1:n.806G>A (SYNE2)
ENST00000555002.5:c.10042G>A (SYNE2)	ENSP00000450831.1:p.Asp3348Asn
ENST00000555022.5:c.1705G>A (SYNE2)	ENSP00000451009.1:p.Asp569Asn
ENST00000555612.5:c.*1892G>A (SYNE2)	ENSP00000451972.1:n.*1892G>A
ENST00000556275.5:c.1406+13316C>T (ESR2)	ENSP00000452485.2:n.1406+13316C>T
XM_005267454.1:c.20182G>A (SYNE2)	XP_005267511.1:p.Asp6728Asn
XM_005267456.1:c.20182G>A (SYNE2)	XP_005267513.1:p.Asp6728Asn
XM_005267457.1:c.20140G>A (SYNE2)	XP_005267514.1:p.Asp6714Asn
XM_005267458.1:c.20113G>A (SYNE2)	XP_005267515.1:p.Asp6705Asn
XM_005267459.1:c.20071G>A (SYNE2)	XP_005267516.1:p.Asp6691Asn
XM_011536545.1:c.1406+13316C>T (ESR2)	XP_011534847.1:n.1406+13316C>T
XM_011536574.1:c.20224G>A (SYNE2)	XP_011534876.1:p.Asp6742Asn
XM_011536575.1:c.20224G>A (SYNE2)	XP_011534877.1:p.Asp6742Asn
XM_011536575.2:c.20224G>A (SYNE2)	XP_011534877.1:p.Asp6742Asn
XM_011536576.1:c.20224G>A (SYNE2)	XP_011534878.1:p.Asp6742Asn
XM_011536576.2:c.20224G>A (SYNE2)	XP_011534878.1:p.Asp6742Asn
XM_011536577.1:c.20224G>A (SYNE2)	XP_011534879.1:p.Asp6742Asn
XM_011536577.2:c.20224G>A (SYNE2)	XP_011534879.1:p.Asp6742Asn
XM_011536578.1:c.20224G>A (SYNE2)	XP_011534880.1:p.Asp6742Asn
XM_011536579.1:c.20182G>A (SYNE2)	XP_011534881.1:p.Asp6728Asn
XM_011536580.1:c.20182G>A (SYNE2)	XP_011534882.1:p.Asp6728Asn
XM_011536580.2:c.20182G>A (SYNE2)	XP_011534882.1:p.Asp6728Asn
XM_011536581.1:c.20155G>A (SYNE2)	XP_011534883.1:p.Asp6719Asn
XM_011536582.1:c.20107G>A (SYNE2)	XP_011534884.1:p.Asp6703Asn
XM_011536583.1:c.17029G>A (SYNE2)	XP_011534885.1:p.Asp5677Asn
XM_017021101.1:c.20224G>A (SYNE2)	XP_016876590.1:p.Asp6742Asn
XM_017021102.1:c.20155G>A (SYNE2)	XP_016876591.1:p.Asp6719Asn
XM_017021103.2:c.2164G>A (SYNE2)	XP_016876592.1:p.Asp722Asn
XM_017021104.2:c.2164G>A (SYNE2)	XP_016876593.1:p.Asp722Asn