Canonical Allele Identifier: CA7847001
Community Standard Title: NM_016333.4(SRRM2):c.775C>T (p.Arg259Trp)
Gene: SRRM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2759603C>T , CM000678.2:g.2759603C>T GRCh38
NC_000016.9:g.2809604C>T , CM000678.1:g.2809604C>T GRCh37
NC_000016.8:g.2749605C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016333.4:c.775C>T MANE Select NP_057417.3:p.Arg259Trp
ENST00000301740.13:c.775C>T MANE Select ENSP00000301740.8:p.Arg259Trp
NM_016333.3:c.775C>T NP_057417.3:p.Arg259Trp
ENST00000301740.12:c.775C>T ENSP00000301740.8:p.Arg259Trp
ENST00000570655.1:n.335C>T
ENST00000570971.2:c.487C>T ENSP00000484503.1:p.Arg163Trp
ENST00000571378.5:c.487C>T ENSP00000458647.1:p.Arg163Trp
ENST00000573451.5:n.313C>T
ENST00000573498.5:n.490C>T
ENST00000573498.6:n.480C>T
ENST00000575009.5:c.487C>T ENSP00000458870.1:p.Arg163Trp
ENST00000575870.5:n.374C>T
ENST00000575870.6:c.430C>T ENSP00000515703.1:p.Arg144Trp
ENST00000576894.5:n.1192C>T
ENST00000576924.5:c.775C>T ENSP00000461181.1:p.Arg259Trp
ENST00000576924.6:c.775C>T ENSP00000461181.2:p.Arg259Trp
ENST00000630499.2:c.487C>T ENSP00000487247.1:p.Arg163Trp
ENST00000704117.1:n.661C>T
XM_005255226.1:c.775C>T XP_005255283.1:p.Arg259Trp
XM_005255226.2:c.775C>T XP_005255283.1:p.Arg259Trp
XM_005255227.3:c.775C>T XP_005255284.1:p.Arg259Trp
XM_006720874.2:c.775C>T XP_006720937.1:p.Arg259Trp
XM_006720874.4:c.775C>T XP_006720937.1:p.Arg259Trp
XM_011522443.1:c.336C>T XP_011520745.1:p.Ala112=
XR_001751880.2:n.2750C>T
XR_001751881.2:n.728C>T
XR_001751882.2:n.667C>T
XR_001751883.2:n.725C>T
XR_001751884.2:n.2750C>T
XR_001751885.2:n.2750C>T
XR_002957795.1:n.2750C>T
XR_002957796.1:n.2750C>T
XR_002957797.1:n.2750C>T
XR_243270.1:n.1302C>T
XR_243270.2:n.2750C>T
XR_932814.1:n.1302C>T
XR_932814.2:n.2750C>T
XR_932815.1:n.1310C>T
XR_932815.2:n.2758C>T
XR_932816.1:n.1004C>T
XR_932816.2:n.1303C>T
XR_932817.1:n.1302C>T
XR_932817.2:n.2750C>T
XR_932818.1:n.1302C>T
XR_932819.1:n.1299C>T
XR_932819.2:n.2747C>T
XR_932821.1:n.1302C>T
XR_932822.1:n.1302C>T
XR_932822.2:n.2750C>T