Canonical Allele Identifier: CA2835557

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5708422A>G , CM000666.2:g.5708422A>G	GRCh38
NC_000004.11:g.5710149A>G , CM000666.1:g.5710149A>G	GRCh37
NC_000004.10:g.5761050A>G	NCBI36
NG_008843.1:g.2226A>G
NG_015821.1:g.6127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.92T>C MANE Select	ENSP00000342144.5:p.Leu31Pro
ENST00000310917.6:c.-13+407T>C	ENSP00000311683.2:n.-13+407T>C
ENST00000344408.9:c.92T>C	ENSP00000342144.5:p.Leu31Pro
ENST00000475313.5:c.-13+407T>C	ENSP00000431981.1:n.-13+407T>C
ENST00000509670.1:c.-106-282T>C	ENSP00000423876.1:n.-106-282T>C
NM_001166136.1:c.-13+407T>C	NP_001159608.1:n.-13+407T>C
NM_147127.4:c.92T>C	NP_667338.3:p.Leu31Pro
XM_011513392.1:c.92T>C	XP_011511694.1:p.Leu31Pro
XM_011513393.1:c.92T>C	XP_011511695.1:p.Leu31Pro
XM_011513394.1:c.-13+407T>C	XP_011511696.1:n.-13+407T>C
XM_017007736.1:c.-106-282T>C	XP_016863225.1:n.-106-282T>C
XM_017007738.1:c.92T>C	XP_016863227.1:p.Leu31Pro
XM_017007739.1:c.-1538-282T>C	XP_016863228.1:n.-1538-282T>C
XR_001741141.1:n.157T>C
NM_147127.5:c.92T>C MANE Select	NP_667338.3:p.Leu31Pro
NM_001166136.2:c.-13+407T>C	NP_001159608.1:n.-13+407T>C