Canonical Allele Identifier: CA707635874

Gene: SYNE2 ESR2

Linked Data

• dbSNP Id: rs1203146181
• gnomAD v3: 14-64130138-TTGCAAGGCA-T
• gnomAD v4: 14-64130138-TTGCAAGGCA-T
• MyVariant Identifiers: chr14:g.64596857_64596865del (hg19) ; chr14:g.64130139_64130147del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64130141_64130149del , CM000676.2:g.64130141_64130149del	GRCh38
NC_000014.8:g.64596859_64596867del , CM000676.1:g.64596859_64596867del	GRCh37
NC_000014.7:g.63666612_63666620del	NCBI36
NG_011756.1:g.282177_282185del
NG_011756.2:g.373243_373251del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555002.6:c.14233_14241del (SYNE2) MANE Select	ENSP00000450831.2:p.Gln4745_Met4747del
ENST00000673797.1:c.1636_1644del (SYNE2)	ENSP00000501238.1:p.Gln546_Met548del
ENST00000344113.8:c.14233_14241del (SYNE2)	ENSP00000341781.4:p.Gln4745_Met4747del
ENST00000357395.7:c.13984_13992del (SYNE2)	ENSP00000349969.4:p.Gln4662_Met4664del
ENST00000358025.7:c.14233_14241del (SYNE2)	ENSP00000350719.3:p.Gln4745_Met4747del
ENST00000394768.6:c.3388_3396del (SYNE2)	ENSP00000378249.2:p.Gln1130_Met1132del
ENST00000554584.5:c.13984_13992del (SYNE2)	ENSP00000452570.1:p.Gln4662_Met4664del
ENST00000555002.5:c.4135_4143del (SYNE2)	ENSP00000450831.1:p.Gln1379_Met1381del
ENST00000556275.5:c.1407-45095_1407-45087del (ESR2)	ENSP00000452485.2:n.1407-45095_1407-45087del
NM_015180.4:c.14233_14241del (SYNE2)	NP_055995.4:p.Gln4745_Met4747del
NM_182914.2:c.14233_14241del (SYNE2)	NP_878918.2:p.Gln4745_Met4747del
XM_005267454.1:c.14233_14241del (SYNE2)	XP_005267511.1:p.Gln4745_Met4747del
XM_005267456.1:c.14233_14241del (SYNE2)	XP_005267513.1:p.Gln4745_Met4747del
XM_005267457.1:c.14233_14241del (SYNE2)	XP_005267514.1:p.Gln4745_Met4747del
XM_005267458.1:c.14233_14241del (SYNE2)	XP_005267515.1:p.Gln4745_Met4747del
XM_005267459.1:c.14233_14241del (SYNE2)	XP_005267516.1:p.Gln4745_Met4747del
XM_006720084.2:c.14233_14241del (SYNE2)	XP_006720147.1:p.Gln4745_Met4747del
XM_011536574.1:c.14233_14241del (SYNE2)	XP_011534876.1:p.Gln4745_Met4747del
XM_011536575.1:c.14233_14241del (SYNE2)	XP_011534877.1:p.Gln4745_Met4747del
XM_011536576.1:c.14233_14241del (SYNE2)	XP_011534878.1:p.Gln4745_Met4747del
XM_011536577.1:c.14233_14241del (SYNE2)	XP_011534879.1:p.Gln4745_Met4747del
XM_011536578.1:c.14233_14241del (SYNE2)	XP_011534880.1:p.Gln4745_Met4747del
XM_011536579.1:c.14233_14241del (SYNE2)	XP_011534881.1:p.Gln4745_Met4747del
XM_011536580.1:c.14233_14241del (SYNE2)	XP_011534882.1:p.Gln4745_Met4747del
XM_011536581.1:c.14233_14241del (SYNE2)	XP_011534883.1:p.Gln4745_Met4747del
XM_011536582.1:c.14116_14124del (SYNE2)	XP_011534884.1:p.Gln4706_Met4708del
XM_011536583.1:c.11038_11046del (SYNE2)	XP_011534885.1:p.Gln3680_Met3682del
XM_011536575.2:c.14233_14241del (SYNE2)	XP_011534877.1:p.Gln4745_Met4747del
XM_011536576.2:c.14233_14241del (SYNE2)	XP_011534878.1:p.Gln4745_Met4747del
XM_011536577.2:c.14233_14241del (SYNE2)	XP_011534879.1:p.Gln4745_Met4747del
XM_011536580.2:c.14233_14241del (SYNE2)	XP_011534882.1:p.Gln4745_Met4747del
XM_017021101.1:c.14233_14241del (SYNE2)	XP_016876590.1:p.Gln4745_Met4747del
XM_017021102.1:c.14164_14172del (SYNE2)	XP_016876591.1:p.Gln4722_Met4724del
XR_001750198.1:n.14463_14471del (SYNE2)
NM_015180.5:c.14233_14241del (SYNE2)	NP_055995.4:p.Gln4745_Met4747del
NM_015180.6:c.14233_14241del (SYNE2)	NP_055995.4:p.Gln4745_Met4747del
NM_182914.3:c.14233_14241del (SYNE2) MANE Select	NP_878918.2:p.Gln4745_Met4747del