Canonical Allele Identifier: CA8317456

Gene: CAMTA2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4973208C>T , CM000679.2:g.4973208C>T	GRCh38
NC_000017.10:g.4876503C>T , CM000679.1:g.4876503C>T	GRCh37
NC_000017.9:g.4817227C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348066.8:c.2247G>A MANE Select	ENSP00000321813.7:p.Pro749=
ENST00000348066.7:c.2247G>A	ENSP00000321813.7:p.Pro749=
ENST00000361571.9:c.2244G>A	ENSP00000354828.5:p.Pro748=
ENST00000381311.9:c.2253G>A	ENSP00000370712.5:p.Pro751=
ENST00000414043.7:c.2316G>A	ENSP00000412886.3:p.Pro772=
ENST00000572326.1:n.363G>A
ENST00000572543.5:c.2262G>A	ENSP00000460779.1:p.Pro754=
ENST00000574951.5:c.*1828G>A	ENSP00000458560.1:n.*1828G>A
NM_001171166.1:c.2253G>A	NP_001164637.1:p.Pro751=
NM_001171167.1:c.2316G>A	NP_001164638.1:p.Pro772=
NM_001171168.1:c.2244G>A	NP_001164639.1:p.Pro748=
NM_015099.3:c.2247G>A	NP_055914.2:p.Pro749=
XM_006721478.2:c.2262G>A	XP_006721541.1:p.Pro754=
XM_006721481.2:c.2175G>A	XP_006721544.1:p.Pro725=
XM_006721482.2:c.1686G>A	XP_006721545.1:p.Pro562=
XM_011523746.1:c.2331G>A	XP_011522048.1:p.Pro777=
XM_011523747.1:c.2316G>A	XP_011522049.1:p.Pro772=
XM_011523748.1:c.2331G>A	XP_011522050.1:p.Pro777=
XM_011523749.1:c.2316G>A	XP_011522051.1:p.Pro772=
XR_934009.1:n.2292G>A
XM_006721478.4:c.2262G>A	XP_006721541.1:p.Pro754=
XM_006721481.4:c.2175G>A	XP_006721544.1:p.Pro725=
XM_006721482.3:c.1686G>A	XP_006721545.1:p.Pro562=
XM_011523746.3:c.2331G>A	XP_011522048.1:p.Pro777=
XM_011523747.3:c.2316G>A	XP_011522049.1:p.Pro772=
XM_011523748.3:c.2331G>A	XP_011522050.1:p.Pro777=
XM_011523749.3:c.2316G>A	XP_011522051.1:p.Pro772=
NM_015099.4:c.2247G>A MANE Select	NP_055914.2:p.Pro749=
NM_001171166.2:c.2253G>A	NP_001164637.1:p.Pro751=
NM_001171167.2:c.2316G>A	NP_001164638.1:p.Pro772=
NM_001171168.2:c.2244G>A	NP_001164639.1:p.Pro748=