Canonical Allele Identifier: CA486719869

Gene: SYNE2 ESR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64190214T>C , CM000676.2:g.64190214T>C	GRCh38
NC_000014.8:g.64656932T>C , CM000676.1:g.64656932T>C	GRCh37
NC_000014.7:g.63726685T>C	NCBI36
NG_011756.1:g.342250T>C
NG_011756.2:g.433316T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182914.3:c.18015T>C (SYNE2) MANE Select	NP_878918.2:p.His6005=
ENST00000555002.6:c.18015T>C (SYNE2) MANE Select	ENSP00000450831.2:p.His6005=
NM_015180.4:c.18015T>C (SYNE2)	NP_055995.4:p.His6005=
NM_015180.5:c.18015T>C (SYNE2)	NP_055995.4:p.His6005=
NM_015180.6:c.18015T>C (SYNE2)	NP_055995.4:p.His6005=
NM_182914.2:c.18015T>C (SYNE2)	NP_878918.2:p.His6005=
ENST00000344113.8:c.18015T>C (SYNE2)	ENSP00000341781.4:p.His6005=
ENST00000357395.7:c.17622T>C (SYNE2)	ENSP00000349969.4:p.His5874=
ENST00000358025.7:c.18015T>C (SYNE2)	ENSP00000350719.3:p.His6005=
ENST00000394768.6:c.7170T>C (SYNE2)	ENSP00000378249.2:p.His2390=
ENST00000553289.5:c.1626+1506T>C (SYNE2)	ENSP00000451184.1:n.1626+1506T>C
ENST00000554584.5:c.17604T>C (SYNE2)	ENSP00000452570.1:p.His5868=
ENST00000555002.5:c.7917T>C (SYNE2)	ENSP00000450831.1:p.His2639=
ENST00000555612.5:c.2901T>C (SYNE2)	ENSP00000451972.1:p.His967=
ENST00000556275.5:c.1406+44756A>G (ESR2)	ENSP00000452485.2:n.1406+44756A>G
XM_005267454.1:c.18015T>C (SYNE2)	XP_005267511.1:p.His6005=
XM_005267456.1:c.18015T>C (SYNE2)	XP_005267513.1:p.His6005=
XM_005267457.1:c.18015T>C (SYNE2)	XP_005267514.1:p.His6005=
XM_005267458.1:c.18015T>C (SYNE2)	XP_005267515.1:p.His6005=
XM_005267459.1:c.18015T>C (SYNE2)	XP_005267516.1:p.His6005=
XM_011536545.1:c.1407-16655A>G (ESR2)	XP_011534847.1:n.1407-16655A>G
XM_011536574.1:c.18015T>C (SYNE2)	XP_011534876.1:p.His6005=
XM_011536575.1:c.18015T>C (SYNE2)	XP_011534877.1:p.His6005=
XM_011536575.2:c.18015T>C (SYNE2)	XP_011534877.1:p.His6005=
XM_011536576.1:c.18015T>C (SYNE2)	XP_011534878.1:p.His6005=
XM_011536576.2:c.18015T>C (SYNE2)	XP_011534878.1:p.His6005=
XM_011536577.1:c.18015T>C (SYNE2)	XP_011534879.1:p.His6005=
XM_011536577.2:c.18015T>C (SYNE2)	XP_011534879.1:p.His6005=
XM_011536578.1:c.18015T>C (SYNE2)	XP_011534880.1:p.His6005=
XM_011536579.1:c.18015T>C (SYNE2)	XP_011534881.1:p.His6005=
XM_011536580.1:c.18015T>C (SYNE2)	XP_011534882.1:p.His6005=
XM_011536580.2:c.18015T>C (SYNE2)	XP_011534882.1:p.His6005=
XM_011536581.1:c.18015T>C (SYNE2)	XP_011534883.1:p.His6005=
XM_011536582.1:c.17898T>C (SYNE2)	XP_011534884.1:p.His5966=
XM_011536583.1:c.14820T>C (SYNE2)	XP_011534885.1:p.His4940=
XM_017021101.1:c.18015T>C (SYNE2)	XP_016876590.1:p.His6005=
XM_017021102.1:c.17946T>C (SYNE2)	XP_016876591.1:p.His5982=