Canonical Allele Identifier: CA389979735

Gene: SYNE2 ESR2

Linked Data

• gnomAD v4: 14-64130135-T-G
• MyVariant Identifiers: chr14:g.64596853T>G (hg19) ; chr14:g.64130135T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64130135T>G , CM000676.2:g.64130135T>G	GRCh38
NC_000014.8:g.64596853T>G , CM000676.1:g.64596853T>G	GRCh37
NC_000014.7:g.63666606T>G	NCBI36
NG_011756.1:g.282171T>G
NG_011756.2:g.373237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555002.6:c.14227T>G (SYNE2) MANE Select	ENSP00000450831.2:p.Leu4743Val
ENST00000673797.1:c.1630T>G (SYNE2)	ENSP00000501238.1:p.Leu544Val
ENST00000344113.8:c.14227T>G (SYNE2)	ENSP00000341781.4:p.Leu4743Val
ENST00000357395.7:c.13978T>G (SYNE2)	ENSP00000349969.4:p.Leu4660Val
ENST00000358025.7:c.14227T>G (SYNE2)	ENSP00000350719.3:p.Leu4743Val
ENST00000394768.6:c.3382T>G (SYNE2)	ENSP00000378249.2:p.Leu1128Val
ENST00000554584.5:c.13978T>G (SYNE2)	ENSP00000452570.1:p.Leu4660Val
ENST00000555002.5:c.4129T>G (SYNE2)	ENSP00000450831.1:p.Leu1377Val
ENST00000556275.5:c.1407-45083A>C (ESR2)	ENSP00000452485.2:n.1407-45083A>C
NM_015180.4:c.14227T>G (SYNE2)	NP_055995.4:p.Leu4743Val
NM_182914.2:c.14227T>G (SYNE2)	NP_878918.2:p.Leu4743Val
XM_005267454.1:c.14227T>G (SYNE2)	XP_005267511.1:p.Leu4743Val
XM_005267456.1:c.14227T>G (SYNE2)	XP_005267513.1:p.Leu4743Val
XM_005267457.1:c.14227T>G (SYNE2)	XP_005267514.1:p.Leu4743Val
XM_005267458.1:c.14227T>G (SYNE2)	XP_005267515.1:p.Leu4743Val
XM_005267459.1:c.14227T>G (SYNE2)	XP_005267516.1:p.Leu4743Val
XM_006720084.2:c.14227T>G (SYNE2)	XP_006720147.1:p.Leu4743Val
XM_011536574.1:c.14227T>G (SYNE2)	XP_011534876.1:p.Leu4743Val
XM_011536575.1:c.14227T>G (SYNE2)	XP_011534877.1:p.Leu4743Val
XM_011536576.1:c.14227T>G (SYNE2)	XP_011534878.1:p.Leu4743Val
XM_011536577.1:c.14227T>G (SYNE2)	XP_011534879.1:p.Leu4743Val
XM_011536578.1:c.14227T>G (SYNE2)	XP_011534880.1:p.Leu4743Val
XM_011536579.1:c.14227T>G (SYNE2)	XP_011534881.1:p.Leu4743Val
XM_011536580.1:c.14227T>G (SYNE2)	XP_011534882.1:p.Leu4743Val
XM_011536581.1:c.14227T>G (SYNE2)	XP_011534883.1:p.Leu4743Val
XM_011536582.1:c.14110T>G (SYNE2)	XP_011534884.1:p.Leu4704Val
XM_011536583.1:c.11032T>G (SYNE2)	XP_011534885.1:p.Leu3678Val
XM_011536575.2:c.14227T>G (SYNE2)	XP_011534877.1:p.Leu4743Val
XM_011536576.2:c.14227T>G (SYNE2)	XP_011534878.1:p.Leu4743Val
XM_011536577.2:c.14227T>G (SYNE2)	XP_011534879.1:p.Leu4743Val
XM_011536580.2:c.14227T>G (SYNE2)	XP_011534882.1:p.Leu4743Val
XM_017021101.1:c.14227T>G (SYNE2)	XP_016876590.1:p.Leu4743Val
XM_017021102.1:c.14158T>G (SYNE2)	XP_016876591.1:p.Leu4720Val
XR_001750198.1:n.14457T>G (SYNE2)
NM_015180.5:c.14227T>G (SYNE2)	NP_055995.4:p.Leu4743Val
NM_015180.6:c.14227T>G (SYNE2)	NP_055995.4:p.Leu4743Val
NM_182914.3:c.14227T>G (SYNE2) MANE Select	NP_878918.2:p.Leu4743Val