Canonical Allele Identifier: CA2835494

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5694444G>C , CM000666.2:g.5694444G>C	GRCh38
NC_000004.11:g.5696171G>C , CM000666.1:g.5696171G>C	GRCh37
NC_000004.10:g.5747072G>C	NCBI36
NG_015821.1:g.20105C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.341C>G MANE Select	NP_667338.3:p.Ser114Ter
ENST00000344408.10:c.341C>G MANE Select	ENSP00000342144.5:p.Ser114Ter
NM_001166136.1:c.101C>G	NP_001159608.1:p.Ser34Ter
NM_001166136.2:c.101C>G	NP_001159608.1:p.Ser34Ter
NM_147127.4:c.341C>G	NP_667338.3:p.Ser114Ter
ENST00000310917.6:c.101C>G	ENSP00000311683.2:p.Ser34Ter
ENST00000344408.9:c.341C>G	ENSP00000342144.5:p.Ser114Ter
ENST00000475313.5:c.101C>G	ENSP00000431981.1:p.Ser34Ter
ENST00000509670.1:c.101C>G	ENSP00000423876.1:p.Ser34Ter
XM_011513392.1:c.341C>G	XP_011511694.1:p.Ser114Ter
XM_011513393.1:c.341C>G	XP_011511695.1:p.Ser114Ter
XM_011513394.1:c.101C>G	XP_011511696.1:p.Ser34Ter
XM_017007736.1:c.101C>G	XP_016863225.1:p.Ser34Ter
XM_017007737.1:c.101C>G	XP_016863226.1:p.Ser34Ter
XM_017007738.1:c.341C>G	XP_016863227.1:p.Ser114Ter
XM_017007739.1:c.-1332C>G	XP_016863228.1:n.-1332C>G
XM_024453893.1:c.-1436C>G	XP_024309661.1:n.-1436C>G
XR_001741141.1:n.406C>G