Canonical Allele Identifier: CA352517111

Gene: NBEAL2

Linked Data

• dbSNP Id: rs2036877106
• MyVariant Identifiers: chr3:g.47041793C>G (hg19) ; chr3:g.47000303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000303C>G , CM000665.2:g.47000303C>G	GRCh38
NC_000003.11:g.47041793C>G , CM000665.1:g.47041793C>G	GRCh37
NC_000003.10:g.47016797C>G	NCBI36
NG_031914.1:g.25621C>G , LRG_568:g.25621C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4204C>G MANE Select	ENSP00000415034.2:p.Pro1402Ala
ENST00000651747.1:c.4102C>G	ENSP00000499216.1:p.Pro1368Ala
ENST00000416683.5:c.2067C>G
ENST00000450053.7:c.4204C>G	ENSP00000415034.2:p.Pro1402Ala
NM_015175.2:c.4204C>G , LRG_568t1:c.4204C>G	NP_055990.1:p.Pro1402Ala
XM_005264992.2:c.4102C>G	XP_005265049.1:p.Pro1368Ala
XM_005264993.2:c.676C>G	XP_005265050.1:p.Pro226Ala
XM_006713072.2:c.4123C>G	XP_006713135.1:p.Pro1375Ala
XM_011533532.1:c.4183C>G	XP_011531834.1:p.Pro1395Ala
XM_011533533.1:c.4204C>G	XP_011531835.1:p.Pro1402Ala
XM_011533534.1:c.3835C>G	XP_011531836.1:p.Pro1279Ala
XM_011533535.1:c.3664C>G	XP_011531837.1:p.Pro1222Ala
XM_011533536.1:c.3550C>G	XP_011531838.1:p.Pro1184Ala
XM_011533537.1:c.3112C>G	XP_011531839.1:p.Pro1038Ala
XR_940397.1:n.4380C>G
XR_940398.1:n.4380C>G
NM_001365116.1:c.4102C>G	NP_001352045.1:p.Pro1368Ala
XM_006713072.3:c.4123C>G	XP_006713135.1:p.Pro1375Ala
XM_011533533.2:c.4204C>G	XP_011531835.1:p.Pro1402Ala
XM_017006010.1:c.4204C>G	XP_016861499.1:p.Pro1402Ala
XM_017006011.1:c.4183C>G	XP_016861500.1:p.Pro1395Ala
XM_017006012.1:c.4123C>G	XP_016861501.1:p.Pro1375Ala
XM_017006013.1:c.4204C>G	XP_016861502.1:p.Pro1402Ala
XM_017006014.1:c.4102C>G	XP_016861503.1:p.Pro1368Ala
XM_017006015.1:c.3835C>G	XP_016861504.1:p.Pro1279Ala
XM_017006016.1:c.3664C>G	XP_016861505.1:p.Pro1222Ala
XM_017006017.1:c.676C>G	XP_016861506.1:p.Pro226Ala
XR_940397.2:n.4380C>G
NM_001365116.2:c.4102C>G	NP_001352045.1:p.Pro1368Ala
NM_015175.3:c.4204C>G MANE Select	NP_055990.1:p.Pro1402Ala