Canonical Allele Identifier: CA91712414

Gene: EVC2

Linked Data

• dbSNP Id: rs905743405
• gnomAD v3: 4-5628709-A-G
• gnomAD v4: 4-5628709-A-G
• MyVariant Identifiers: chr4:g.5630436A>G (hg19) ; chr4:g.5628709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628709A>G , CM000666.2:g.5628709A>G	GRCh38
NC_000004.11:g.5630436A>G , CM000666.1:g.5630436A>G	GRCh37
NC_000004.10:g.5681337A>G	NCBI36
NG_015821.1:g.85840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1736T>C MANE Select	ENSP00000342144.5:p.Phe579Ser
ENST00000310917.6:c.1496T>C	ENSP00000311683.2:p.Phe499Ser
ENST00000344408.9:c.1736T>C	ENSP00000342144.5:p.Phe579Ser
ENST00000475313.5:c.1496T>C	ENSP00000431981.1:p.Phe499Ser
ENST00000509670.1:c.*129T>C	ENSP00000423876.1:n.*129T>C
NM_001166136.1:c.1496T>C	NP_001159608.1:p.Phe499Ser
NM_147127.4:c.1736T>C	NP_667338.3:p.Phe579Ser
XM_011513392.1:c.1745T>C	XP_011511694.1:p.Phe582Ser
XM_011513393.1:c.1745T>C	XP_011511695.1:p.Phe582Ser
XM_011513394.1:c.1505T>C	XP_011511696.1:p.Phe502Ser
XM_017007736.1:c.1496T>C	XP_016863225.1:p.Phe499Ser
XM_017007737.1:c.1496T>C	XP_016863226.1:p.Phe499Ser
XM_017007738.1:c.1736T>C	XP_016863227.1:p.Phe579Ser
XM_017007739.1:c.56T>C	XP_016863228.1:p.Phe19Ser
XM_024453893.1:c.56T>C	XP_024309661.1:p.Phe19Ser
XR_001741141.1:n.1801T>C
NM_147127.5:c.1736T>C MANE Select	NP_667338.3:p.Phe579Ser
NM_001166136.2:c.1496T>C	NP_001159608.1:p.Phe499Ser