Canonical Allele Identifier: CA2834914

Gene: EVC2

Linked Data

• dbSNP Id: rs776932063
• ExAC: 4:5630292 T / G
• gnomAD v2: 4-5630292-T-G
• gnomAD v4: 4-5628565-T-G
• MyVariant Identifiers: chr4:g.5630292T>G (hg19) ; chr4:g.5628565T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628565T>G , CM000666.2:g.5628565T>G	GRCh38
NC_000004.11:g.5630292T>G , CM000666.1:g.5630292T>G	GRCh37
NC_000004.10:g.5681193T>G	NCBI36
NG_015821.1:g.85984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1880A>C MANE Select	ENSP00000342144.5:p.His627Pro
ENST00000310917.6:c.1640A>C	ENSP00000311683.2:p.His547Pro
ENST00000344408.9:c.1880A>C	ENSP00000342144.5:p.His627Pro
ENST00000475313.5:c.1640A>C	ENSP00000431981.1:p.His547Pro
ENST00000509670.1:c.*273A>C	ENSP00000423876.1:n.*273A>C
NM_001166136.1:c.1640A>C	NP_001159608.1:p.His547Pro
NM_147127.4:c.1880A>C	NP_667338.3:p.His627Pro
XM_011513392.1:c.1889A>C	XP_011511694.1:p.His630Pro
XM_011513393.1:c.1889A>C	XP_011511695.1:p.His630Pro
XM_011513394.1:c.1649A>C	XP_011511696.1:p.His550Pro
XM_017007736.1:c.1640A>C	XP_016863225.1:p.His547Pro
XM_017007737.1:c.1640A>C	XP_016863226.1:p.His547Pro
XM_017007738.1:c.1880A>C	XP_016863227.1:p.His627Pro
XM_017007739.1:c.200A>C	XP_016863228.1:p.His67Pro
XM_024453893.1:c.200A>C	XP_024309661.1:p.His67Pro
XR_001741141.1:n.1945A>C
NM_147127.5:c.1880A>C MANE Select	NP_667338.3:p.His627Pro
NM_001166136.2:c.1640A>C	NP_001159608.1:p.His547Pro