Canonical Allele Identifier: CA9383028
Community Standard Title: NM_014209.4(ETV2):c.868A>G (p.Met290Val)
Gene: ETV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35644691A>G , CM000681.2:g.35644691A>G GRCh38
NC_000019.9:g.36135593A>G , CM000681.1:g.36135593A>G GRCh37
NC_000019.8:g.40827433A>G NCBI36
NG_012193.1:g.1439A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014209.4:c.868A>G MANE Select NP_055024.2:p.Met290Val
ENST00000402764.6:c.868A>G MANE Select ENSP00000384524.2:p.Met290Val
NM_001300974.1:c.589A>G NP_001287903.1:p.Met197Val
NM_001300974.2:c.589A>G NP_001287903.1:p.Met197Val
NM_001304549.1:c.307A>G NP_001291478.1:p.Met103Val
NM_001304549.2:c.307A>G NP_001291478.1:p.Met103Val
NM_014209.3:c.868A>G NP_055024.2:p.Met290Val
ENST00000379023.8:c.307A>G ENSP00000368309.3:p.Met103Val
ENST00000379026.6:c.952A>G ENSP00000368312.2:p.Met318Val
ENST00000403402.1:c.868A>G ENSP00000385369.1:p.Met290Val
ENST00000479824.5:c.589A>G ENSP00000468453.1:p.Met197Val
ENST00000621247.4:c.*161A>G ENSP00000480641.1:n.*161A>G
XM_005258652.2:c.952A>G XP_005258709.1:p.Met318Val
XM_005258653.2:c.787A>G XP_005258710.1:p.Met263Val
XM_011526624.1:c.589A>G XP_011524926.1:p.Met197Val
XM_011526624.2:c.589A>G XP_011524926.1:p.Met197Val
XM_017026472.1:c.871A>G XP_016881961.1:p.Met291Val