Canonical Allele Identifier: CA2834911

Gene: EVC2

Linked Data

• ClinVar Variation Id: 772103
• ClinVar RCV Id: RCV000951555
• dbSNP Id: rs376738238
• ExAC: 4:5630279 G / C
• gnomAD v2: 4-5630279-G-C
• gnomAD v3: 4-5628552-G-C
• gnomAD v4: 4-5628552-G-C
• MyVariant Identifiers: chr4:g.5630279G>C (hg19) ; chr4:g.5628552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628552G>C , CM000666.2:g.5628552G>C	GRCh38
NC_000004.11:g.5630279G>C , CM000666.1:g.5630279G>C	GRCh37
NC_000004.10:g.5681180G>C	NCBI36
NG_015821.1:g.85997C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1886+7C>G MANE Select	ENSP00000342144.5:n.1886+7C>G
ENST00000310917.6:c.1646+7C>G	ENSP00000311683.2:n.1646+7C>G
ENST00000344408.9:c.1886+7C>G	ENSP00000342144.5:n.1886+7C>G
ENST00000475313.5:c.1646+7C>G	ENSP00000431981.1:n.1646+7C>G
ENST00000509670.1:c.*279+7C>G	ENSP00000423876.1:n.*279+7C>G
NM_001166136.1:c.1646+7C>G	NP_001159608.1:n.1646+7C>G
NM_147127.4:c.1886+7C>G	NP_667338.3:n.1886+7C>G
XM_011513392.1:c.1895+7C>G	XP_011511694.1:n.1895+7C>G
XM_011513393.1:c.1895+7C>G	XP_011511695.1:n.1895+7C>G
XM_011513394.1:c.1655+7C>G	XP_011511696.1:n.1655+7C>G
XM_017007736.1:c.1646+7C>G	XP_016863225.1:n.1646+7C>G
XM_017007737.1:c.1646+7C>G	XP_016863226.1:n.1646+7C>G
XM_017007738.1:c.1886+7C>G	XP_016863227.1:n.1886+7C>G
XM_017007739.1:c.206+7C>G	XP_016863228.1:n.206+7C>G
XM_024453893.1:c.206+7C>G	XP_024309661.1:n.206+7C>G
XR_001741141.1:n.1951+7C>G
NM_147127.5:c.1886+7C>G MANE Select	NP_667338.3:n.1886+7C>G
NM_001166136.2:c.1646+7C>G	NP_001159608.1:n.1646+7C>G