Canonical Allele Identifier: CA7223890

Gene: SYNE2 ESR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64190199C>A , CM000676.2:g.64190199C>A	GRCh38
NC_000014.8:g.64656917C>A , CM000676.1:g.64656917C>A	GRCh37
NC_000014.7:g.63726670C>A	NCBI36
NG_011756.1:g.342235C>A
NG_011756.2:g.433301C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182914.3:c.18000C>A (SYNE2) MANE Select	NP_878918.2:p.Asn6000Lys
ENST00000555002.6:c.18000C>A (SYNE2) MANE Select	ENSP00000450831.2:p.Asn6000Lys
NM_015180.4:c.18000C>A (SYNE2)	NP_055995.4:p.Asn6000Lys
NM_015180.5:c.18000C>A (SYNE2)	NP_055995.4:p.Asn6000Lys
NM_015180.6:c.18000C>A (SYNE2)	NP_055995.4:p.Asn6000Lys
NM_182914.2:c.18000C>A (SYNE2)	NP_878918.2:p.Asn6000Lys
ENST00000344113.8:c.18000C>A (SYNE2)	ENSP00000341781.4:p.Asn6000Lys
ENST00000357395.7:c.17607C>A (SYNE2)	ENSP00000349969.4:p.Asn5869Lys
ENST00000358025.7:c.18000C>A (SYNE2)	ENSP00000350719.3:p.Asn6000Lys
ENST00000394768.6:c.7155C>A (SYNE2)	ENSP00000378249.2:p.Asn2385Lys
ENST00000553289.5:c.1626+1491C>A (SYNE2)	ENSP00000451184.1:n.1626+1491C>A
ENST00000554584.5:c.17589C>A (SYNE2)	ENSP00000452570.1:p.Asn5863Lys
ENST00000555002.5:c.7902C>A (SYNE2)	ENSP00000450831.1:p.Asn2634Lys
ENST00000555612.5:c.2886C>A (SYNE2)	ENSP00000451972.1:p.Asn962Lys
ENST00000556275.5:c.1406+44771G>T (ESR2)	ENSP00000452485.2:n.1406+44771G>T
XM_005267454.1:c.18000C>A (SYNE2)	XP_005267511.1:p.Asn6000Lys
XM_005267456.1:c.18000C>A (SYNE2)	XP_005267513.1:p.Asn6000Lys
XM_005267457.1:c.18000C>A (SYNE2)	XP_005267514.1:p.Asn6000Lys
XM_005267458.1:c.18000C>A (SYNE2)	XP_005267515.1:p.Asn6000Lys
XM_005267459.1:c.18000C>A (SYNE2)	XP_005267516.1:p.Asn6000Lys
XM_011536545.1:c.1407-16640G>T (ESR2)	XP_011534847.1:n.1407-16640G>T
XM_011536574.1:c.18000C>A (SYNE2)	XP_011534876.1:p.Asn6000Lys
XM_011536575.1:c.18000C>A (SYNE2)	XP_011534877.1:p.Asn6000Lys
XM_011536575.2:c.18000C>A (SYNE2)	XP_011534877.1:p.Asn6000Lys
XM_011536576.1:c.18000C>A (SYNE2)	XP_011534878.1:p.Asn6000Lys
XM_011536576.2:c.18000C>A (SYNE2)	XP_011534878.1:p.Asn6000Lys
XM_011536577.1:c.18000C>A (SYNE2)	XP_011534879.1:p.Asn6000Lys
XM_011536577.2:c.18000C>A (SYNE2)	XP_011534879.1:p.Asn6000Lys
XM_011536578.1:c.18000C>A (SYNE2)	XP_011534880.1:p.Asn6000Lys
XM_011536579.1:c.18000C>A (SYNE2)	XP_011534881.1:p.Asn6000Lys
XM_011536580.1:c.18000C>A (SYNE2)	XP_011534882.1:p.Asn6000Lys
XM_011536580.2:c.18000C>A (SYNE2)	XP_011534882.1:p.Asn6000Lys
XM_011536581.1:c.18000C>A (SYNE2)	XP_011534883.1:p.Asn6000Lys
XM_011536582.1:c.17883C>A (SYNE2)	XP_011534884.1:p.Asn5961Lys
XM_011536583.1:c.14805C>A (SYNE2)	XP_011534885.1:p.Asn4935Lys
XM_017021101.1:c.18000C>A (SYNE2)	XP_016876590.1:p.Asn6000Lys
XM_017021102.1:c.17931C>A (SYNE2)	XP_016876591.1:p.Asn5977Lys