Canonical Allele Identifier: CA2977338
Community Standard Title: NM_025074.7(FRAS1):c.4843+2T>C
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78429228T>C , CM000666.2:g.78429228T>C GRCh38
NC_000004.11:g.79350382T>C , CM000666.1:g.79350382T>C GRCh37
NC_000004.10:g.79569406T>C NCBI36
NG_015812.1:g.376659T>C
NG_015812.2:g.376659T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.4843+2T>C MANE Select NP_079350.5:n.4843+2T>C
ENST00000512123.4:c.4843+2T>C MANE Select ENSP00000422834.2:n.4843+2T>C
NM_001166133.1:c.4843+2T>C NP_001159605.1:n.4843+2T>C
NM_001166133.2:c.4843+2T>C NP_001159605.1:n.4843+2T>C
NM_025074.6:c.4843+2T>C NP_079350.5:n.4843+2T>C
ENST00000264899.10:c.845-14875T>C ENSP00000264899.7:n.845-14875T>C
ENST00000325942.10:c.4843+2T>C ENSP00000326330.6:n.4843+2T>C
ENST00000325942.11:c.4843+2T>C ENSP00000326330.6:n.4843+2T>C
ENST00000510944.3:c.191+2T>C
ENST00000512123.3:c.4843+2T>C ENSP00000422834.2:n.4843+2T>C
ENST00000682513.1:c.4843+2T>C ENSP00000508201.1:n.4843+2T>C
ENST00000684159.1:c.4843+2T>C ENSP00000506875.1:n.4843+2T>C
XM_006714314.1:c.4837+2T>C XP_006714377.1:n.4837+2T>C
XM_006714316.1:c.4843+2T>C XP_006714379.1:n.4843+2T>C
XM_006714316.3:c.4843+2T>C XP_006714379.1:n.4843+2T>C
XM_011532270.1:c.2542+2T>C XP_011530572.1:n.2542+2T>C
XM_011532271.1:c.-22+2T>C XP_011530573.1:n.-22+2T>C