Canonical Allele Identifier: CA7223478

Gene: SYNE2 ESR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64167381G>A , CM000676.2:g.64167381G>A	GRCh38
NC_000014.8:g.64634099G>A , CM000676.1:g.64634099G>A	GRCh37
NC_000014.7:g.63703852G>A	NCBI36
NG_011756.1:g.319417G>A
NG_011756.2:g.410483G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182914.3:c.16754G>A (SYNE2) MANE Select	NP_878918.2:p.Arg5585His
ENST00000555002.6:c.16754G>A (SYNE2) MANE Select	ENSP00000450831.2:p.Arg5585His
NM_015180.4:c.16754G>A (SYNE2)	NP_055995.4:p.Arg5585His
NM_015180.5:c.16754G>A (SYNE2)	NP_055995.4:p.Arg5585His
NM_015180.6:c.16754G>A (SYNE2)	NP_055995.4:p.Arg5585His
NM_182914.2:c.16754G>A (SYNE2)	NP_878918.2:p.Arg5585His
ENST00000344113.8:c.16754G>A (SYNE2)	ENSP00000341781.4:p.Arg5585His
ENST00000357395.7:c.16397G>A (SYNE2)	ENSP00000349969.4:p.Arg5466His
ENST00000358025.7:c.16754G>A (SYNE2)	ENSP00000350719.3:p.Arg5585His
ENST00000394768.6:c.5909G>A (SYNE2)	ENSP00000378249.2:p.Arg1970His
ENST00000553289.5:c.509G>A (SYNE2)	ENSP00000451184.1:p.Arg170His
ENST00000554584.5:c.16379G>A (SYNE2)	ENSP00000452570.1:p.Arg5460His
ENST00000555002.5:c.6656G>A (SYNE2)	ENSP00000450831.1:p.Arg2219His
ENST00000555612.5:c.1640G>A (SYNE2)	ENSP00000451972.1:p.Arg547His
ENST00000556275.5:c.1406+67589C>T (ESR2)	ENSP00000452485.2:n.1406+67589C>T
ENST00000556342.1:n.398G>A (SYNE2)
XM_005267454.1:c.16754G>A (SYNE2)	XP_005267511.1:p.Arg5585His
XM_005267456.1:c.16754G>A (SYNE2)	XP_005267513.1:p.Arg5585His
XM_005267457.1:c.16754G>A (SYNE2)	XP_005267514.1:p.Arg5585His
XM_005267458.1:c.16754G>A (SYNE2)	XP_005267515.1:p.Arg5585His
XM_005267459.1:c.16754G>A (SYNE2)	XP_005267516.1:p.Arg5585His
XM_011536574.1:c.16754G>A (SYNE2)	XP_011534876.1:p.Arg5585His
XM_011536575.1:c.16754G>A (SYNE2)	XP_011534877.1:p.Arg5585His
XM_011536575.2:c.16754G>A (SYNE2)	XP_011534877.1:p.Arg5585His
XM_011536576.1:c.16754G>A (SYNE2)	XP_011534878.1:p.Arg5585His
XM_011536576.2:c.16754G>A (SYNE2)	XP_011534878.1:p.Arg5585His
XM_011536577.1:c.16754G>A (SYNE2)	XP_011534879.1:p.Arg5585His
XM_011536577.2:c.16754G>A (SYNE2)	XP_011534879.1:p.Arg5585His
XM_011536578.1:c.16754G>A (SYNE2)	XP_011534880.1:p.Arg5585His
XM_011536579.1:c.16754G>A (SYNE2)	XP_011534881.1:p.Arg5585His
XM_011536580.1:c.16754G>A (SYNE2)	XP_011534882.1:p.Arg5585His
XM_011536580.2:c.16754G>A (SYNE2)	XP_011534882.1:p.Arg5585His
XM_011536581.1:c.16754G>A (SYNE2)	XP_011534883.1:p.Arg5585His
XM_011536582.1:c.16637G>A (SYNE2)	XP_011534884.1:p.Arg5546His
XM_011536583.1:c.13559G>A (SYNE2)	XP_011534885.1:p.Arg4520His
XM_017021101.1:c.16754G>A (SYNE2)	XP_016876590.1:p.Arg5585His
XM_017021102.1:c.16685G>A (SYNE2)	XP_016876591.1:p.Arg5562His