Canonical Allele Identifier: CA3646103
Community Standard Title: NM_006366.3(CAP2):c.50G>A (p.Arg17His)
Gene: CAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.17421605G>A , CM000668.2:g.17421605G>A GRCh38
NC_000006.11:g.17421836G>A , CM000668.1:g.17421836G>A GRCh37
NC_000006.10:g.17529815G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006366.3:c.50G>A MANE Select NP_006357.1:p.Arg17His
ENST00000229922.7:c.50G>A MANE Select ENSP00000229922.2:p.Arg17His
NM_001363533.1:c.50G>A NP_001350462.1:p.Arg17His
NM_001363533.2:c.50G>A NP_001350462.1:p.Arg17His
NM_001363534.1:c.50G>A NP_001350463.1:p.Arg17His
NM_001363534.2:c.50G>A NP_001350463.1:p.Arg17His
NM_006366.2:c.50G>A NP_006357.1:p.Arg17His
ENST00000229922.6:c.50G>A ENSP00000229922.2:p.Arg17His
ENST00000378990.6:c.50G>A ENSP00000368275.2:p.Arg17His
ENST00000465994.5:c.50G>A ENSP00000418604.1:p.Arg17His
ENST00000476263.1:c.50G>A ENSP00000419906.1:p.Arg17His
ENST00000479291.5:c.50G>A ENSP00000420615.1:p.Arg17His
ENST00000489374.5:c.50G>A ENSP00000417705.1:p.Arg17His
ENST00000493172.5:c.50G>A ENSP00000417208.1:p.Arg17His
ENST00000611958.4:c.50G>A ENSP00000482279.1:p.Arg17His
ENST00000616440.4:c.50G>A ENSP00000483435.1:p.Arg17His
XM_011514233.1:c.50G>A XP_011512535.1:p.Arg17His