Canonical Allele Identifier: CA2835206

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5665534T>C , CM000666.2:g.5665534T>C	GRCh38
NC_000004.11:g.5667261T>C , CM000666.1:g.5667261T>C	GRCh37
NC_000004.10:g.5718162T>C	NCBI36
NG_015821.1:g.49015A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.986A>G MANE Select	NP_667338.3:p.Asn329Ser
ENST00000344408.10:c.986A>G MANE Select	ENSP00000342144.5:p.Asn329Ser
NM_001166136.1:c.746A>G	NP_001159608.1:p.Asn249Ser
NM_001166136.2:c.746A>G	NP_001159608.1:p.Asn249Ser
NM_147127.4:c.986A>G	NP_667338.3:p.Asn329Ser
ENST00000310917.6:c.746A>G	ENSP00000311683.2:p.Asn249Ser
ENST00000344408.9:c.986A>G	ENSP00000342144.5:p.Asn329Ser
ENST00000475313.5:c.746A>G	ENSP00000431981.1:p.Asn249Ser
ENST00000509670.1:c.746A>G	ENSP00000423876.1:p.Asn249Ser
XM_011513392.1:c.986A>G	XP_011511694.1:p.Asn329Ser
XM_011513393.1:c.986A>G	XP_011511695.1:p.Asn329Ser
XM_011513394.1:c.746A>G	XP_011511696.1:p.Asn249Ser
XM_017007736.1:c.746A>G	XP_016863225.1:p.Asn249Ser
XM_017007737.1:c.746A>G	XP_016863226.1:p.Asn249Ser
XM_017007738.1:c.986A>G	XP_016863227.1:p.Asn329Ser
XM_017007739.1:c.-687A>G	XP_016863228.1:n.-687A>G
XM_024453893.1:c.-791A>G	XP_024309661.1:n.-791A>G
XR_001741141.1:n.1051A>G