Canonical Allele Identifier: CA287486861
Community Standard Title: NM_133491.5(SAT2):c.411G>A (p.Met137Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7626549C>T , CM000679.2:g.7626549C>T GRCh38
NC_000017.10:g.7529867C>T , CM000679.1:g.7529867C>T GRCh37
NC_000017.9:g.7470592C>T NCBI36
NG_011981.2:g.17486C>T

Transcript Alleles

HGVS Amino-acid Change
NM_133491.5:c.411G>A (SAT2) MANE Select NP_597998.1:p.Met137Ile
ENST00000269298.10:c.411G>A (SAT2) MANE Select ENSP00000269298.5:p.Met137Ile
NM_001289114.1:c.-61-3869C>T (SHBG) NP_001276043.1:n.-61-3869C>T
NM_001289114.2:c.-61-3869C>T (SHBG) NP_001276043.1:n.-61-3869C>T
NM_001320845.1:c.648G>A (SAT2) NP_001307774.1:p.Met216Ile
NM_001320846.1:c.546G>A (SAT2) NP_001307775.1:p.Met182Ile
NM_001320847.1:c.309G>A (SAT2) NP_001307776.1:p.Met103Ile
NM_001320847.2:c.309G>A (SAT2) NP_001307776.1:p.Met103Ile
NM_133491.3:c.411G>A (SAT2) NP_597998.1:p.Met137Ile
NM_133491.4:c.411G>A (SAT2) NP_597998.1:p.Met137Ile
ENST00000269298.9:c.411G>A (SAT2) ENSP00000269298.5:p.Met137Ile
ENST00000380466.6:n.662G>A (SAT2)
ENST00000570547.5:c.-61-3869C>T (SHBG) ENSP00000458875.1:n.-61-3869C>T
ENST00000570850.5:n.539G>A (SAT2)
ENST00000570914.5:n.453G>A (SAT2)
ENST00000571074.5:c.*298G>A (SAT2) ENSP00000459985.1:n.*298G>A
ENST00000571195.5:n.631G>A (SAT2)
ENST00000572182.5:c.-61-3869C>T (SHBG) ENSP00000458816.1:n.-61-3869C>T
ENST00000572262.5:c.-61-3869C>T (SHBG) ENSP00000459999.1:n.-61-3869C>T
ENST00000573566.1:c.309G>A (SAT2) ENSP00000458385.1:p.Met103Ile
ENST00000574539.5:c.-61-3869C>T (SHBG) ENSP00000458181.1:n.-61-3869C>T
ENST00000575314.5:c.-61-3869C>T (SHBG) ENSP00000458559.1:n.-61-3869C>T
ENST00000575826.5:c.*344G>A (SAT2) ENSP00000458818.1:n.*344G>A
ENST00000576478.5:c.-61-3869C>T (SHBG) ENSP00000461133.1:n.-61-3869C>T
ENST00000576579.5:n.224G>A (SAT2)
ENST00000576686.1:n.567G>A (SAT2)
ENST00000576728.5:c.-61-3869C>T (SHBG) ENSP00000459620.1:n.-61-3869C>T
ENST00000576846.1:n.1248G>A (SAT2)
XM_005256432.1:c.309G>A (SAT2) XP_005256489.1:p.Met103Ile
XM_017024073.1:c.*76G>A (SAT2) XP_016879562.1:n.*76G>A
XM_017024074.1:c.*76G>A (SAT2) XP_016879563.1:n.*76G>A